Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 54

1.

Twenty Years of BRCA1 and BRCA2 Molecular Analysis at MMCI - Current Developments for the Classification of Variants.

Machackova E, Claes K, Mikova M, Házová J, Sťahlová EH, Vasickova P, Trbusek M, Navrátilová M, Svoboda M, Foretová L.

Klin Onkol. 2019 Summer;32(Supplementum2):51-71. doi: 10.14735/amko2019S51.

PMID:
31409081
2.

Impact of gene mutations and chromosomal aberrations on progression-free survival in chronic lymphocytic leukemia patients treated with front-line chemoimmunotherapy: Clinical practice experience.

Spunarova M, Tom N, Pavlova S, Mraz M, Brychtova Y, Doubek M, Panovska A, Skuhrova Francova H, Brzobohata A, Pospisilova S, Mayer J, Trbusek M.

Leuk Res. 2019 Jun;81:75-81. doi: 10.1016/j.leukres.2019.04.015. Epub 2019 Apr 25.

PMID:
31054420
3.

Novel CHK1 inhibitor MU380 exhibits significant single-agent activity in TP53-mutated chronic lymphocytic leukemia cells.

Boudny M, Zemanova J, Khirsariya P, Borsky M, Verner J, Cerna J, Oltova A, Seda V, Mraz M, Jaros J, Jaskova Z, Spunarova M, Brychtova Y, Soucek K, Drapela S, Kasparkova M, Mayer J, Paruch K, Trbusek M.

Haematologica. 2019 Apr 11. pii: haematol.2018.203430. doi: 10.3324/haematol.2018.203430. [Epub ahead of print]

4.

ATM and TP53 mutations show mutual exclusivity but distinct clinical impact in mantle cell lymphoma patients.

Mareckova A, Malcikova J, Tom N, Pal K, Radova L, Salek D, Janikova A, Moulis M, Smardova J, Kren L, Mayer J, Trbusek M.

Leuk Lymphoma. 2019 Jun;60(6):1420-1428. doi: 10.1080/10428194.2018.1542144. Epub 2019 Jan 10.

PMID:
30626249
5.

Activation-induced deaminase and its splice variants associate with trisomy 12 in chronic lymphocytic leukemia.

Zaprazna K, Reblova K, Svobodova V, Radova L, Bystry V, Baloun J, Durechova K, Tom N, Loja T, Buresova M, Stranska K, Oltova A, Doubek M, Atchison ML, Trbusek M, Malcikova J, Pospisilova S.

Ann Hematol. 2019 Feb;98(2):423-435. doi: 10.1007/s00277-018-3520-5. Epub 2018 Oct 27.

PMID:
30368590
6.

Detection and Functional Analysis of TP53 Mutations in CLL.

Pavlova S, Smardova J, Tom N, Trbusek M.

Methods Mol Biol. 2019;1881:63-81. doi: 10.1007/978-1-4939-8876-1_6.

PMID:
30350198
7.

miR-150 downregulation contributes to the high-grade transformation of follicular lymphoma by upregulating FOXP1 levels.

Musilova K, Devan J, Cerna K, Seda V, Pavlasova G, Sharma S, Oppelt J, Pytlik R, Prochazka V, Prouzova Z, Trbusek M, Zlamalikova L, Liskova K, Kruzova L, Jarosova M, Mareckova A, Kornauth C, Simonitsch-Klupp I, Schiefer AI, Merkel O, Mocikova H, Burda P, Machova Polakova K, Kren L, Mayer J, Zent CS, Trneny M, Evans AG, Janikova A, Mraz M.

Blood. 2018 Nov 29;132(22):2389-2400. doi: 10.1182/blood-2018-06-855502. Epub 2018 Sep 13.

PMID:
30213873
8.

MicroRNA miR-34a downregulates FOXP1 during DNA damage response to limit BCR signalling in chronic lymphocytic leukaemia B cells.

Cerna K, Oppelt J, Chochola V, Musilova K, Seda V, Pavlasova G, Radova L, Arigoni M, Calogero RA, Benes V, Trbusek M, Brychtova Y, Doubek M, Mayer J, Pospisilova S, Mraz M.

Leukemia. 2019 Feb;33(2):403-414. doi: 10.1038/s41375-018-0230-x. Epub 2018 Aug 15.

PMID:
30111844
9.

Thorough in silico and in vitro cDNA analysis of 21 putative BRCA1 and BRCA2 splice variants and a complex tandem duplication in BRCA2 allowing the identification of activated cryptic splice donor sites in BRCA2 exon 11.

Baert A, Machackova E, Coene I, Cremin C, Turner K, Portigal-Todd C, Asrat MJ, Nuk J, Mindlin A, Young S, MacMillan A, Van Maerken T, Trbusek M, McKinnon W, Wood ME, Foulkes WD, Santamariña M, de la Hoya M, Foretova L, Poppe B, Vral A, Rosseel T, De Leeneer K, Vega A, Claes KBM.

Hum Mutat. 2018 Apr;39(4):515-526. doi: 10.1002/humu.23390. Epub 2018 Jan 22.

PMID:
29280214
10.

Chk1 inhibition significantly potentiates activity of nucleoside analogs in TP53-mutated B-lymphoid cells.

Zemanova J, Hylse O, Collakova J, Vesely P, Oltova A, Borsky M, Zaprazna K, Kasparkova M, Janovska P, Verner J, Kohoutek J, Dzimkova M, Bryja V, Jaskova Z, Brychtova Y, Paruch K, Trbusek M.

Oncotarget. 2016 Sep 20;7(38):62091-62106. doi: 10.18632/oncotarget.11388.

11.

Ibrutinib inhibits CD20 upregulation on CLL B cells mediated by the CXCR4/SDF-1 axis.

Pavlasova G, Borsky M, Seda V, Cerna K, Osickova J, Doubek M, Mayer J, Calogero R, Trbusek M, Pospisilova S, Davids MS, Kipps TJ, Brown JR, Mraz M.

Blood. 2016 Sep 22;128(12):1609-13. doi: 10.1182/blood-2016-04-709519. Epub 2016 Aug 1.

12.

ATM mutations in major stereotyped subsets of chronic lymphocytic leukemia: enrichment in subset #2 is associated with markedly short telomeres.

Navrkalova V, Young E, Baliakas P, Radova L, Sutton LA, Plevova K, Mansouri L, Ljungström V, Ntoufa S, Davis Z, Juliusson G, Smedby KE, Belessi C, Panagiotidis P, Touloumenidou T, Davi F, Langerak AW, Ghia P, Strefford JC, Oscier D, Mayer J, Stamatopoulos K, Pospisilova S, Rosenquist R, Trbusek M.

Haematologica. 2016 Sep;101(9):e369-73. doi: 10.3324/haematol.2016.142968. Epub 2016 Jun 16. No abstract available.

13.

Single cell analysis revealed a coexistence of NOTCH1 and TP53 mutations within the same cancer cells in chronic lymphocytic leukaemia patients.

Kantorova B, Malcikova J, Brazdilova K, Borsky M, Plevova K, Smardova J, Radova L, Tom N, Trbusek M, Diviskova E, Francova HS, Navrkalova V, Doubek M, Brychtova Y, Mayer J, Pospisilova S.

Br J Haematol. 2017 Sep;178(6):979-982. doi: 10.1111/bjh.14176. Epub 2016 Jul 29. No abstract available.

PMID:
27470445
14.

Assessment of p53 and ATM functionality in chronic lymphocytic leukemia by multiplex ligation-dependent probe amplification.

te Raa GD, Moerland PD, Leeksma AC, Derks IA, Yigittop H, Laddach N, Loden-van Straaten M, Navrkalova V, Trbusek M, Luijks DM, Zenz T, Skowronska A, Hoogendoorn M, Stankovic T, van Oers MH, Eldering E, Kater AP.

Cell Death Dis. 2015 Aug 6;6:e1852. doi: 10.1038/cddis.2015.223.

15.

NOD/SCID IL2Rγ-null mouse xenograft model of human p53-mutated chronic lymphocytic leukemia and ATM-mutated mantle cell lymphoma using permanent cell lines.

Verner J, Trbusek M, Chovancova J, Jaskova Z, Moulis M, Folber F, Halouzka R, Mayer J, Pospisilova S, Doubek M.

Leuk Lymphoma. 2015;56(11):3198-206. doi: 10.3109/10428194.2015.1034701. Epub 2015 May 12.

PMID:
25827173
16.

Ofatumumab added to dexamethasone in patients with relapsed or refractory chronic lymphocytic leukemia: Results from a phase II study.

Doubek M, Brychtova Y, Panovska A, Sebejova L, Stehlikova O, Chovancova J, Malcikova J, Smardova J, Plevova K, Volfova P, Trbusek M, Mraz M, Bakesova D, Trizuljak J, Hadrabova M, Obrtlikova P, Karban J, Smolej L, Oltova A, Jelinkova E, Pospisilova S, Mayer J.

Am J Hematol. 2015 May;90(5):417-21. doi: 10.1002/ajh.23964. Epub 2015 Apr 1.

17.

TP53 mutation analysis in chronic lymphocytic leukemia: comparison of different detection methods.

Kantorova B, Malcikova J, Smardova J, Pavlova S, Trbusek M, Tom N, Plevova K, Tichy B, Truong S, Diviskova E, Kotaskova J, Oltova A, Patten N, Brychtova Y, Doubek M, Mayer J, Pospisilova S.

Tumour Biol. 2015 May;36(5):3371-80. doi: 10.1007/s13277-014-2971-0. Epub 2014 Dec 20.

PMID:
25527155
18.

Targeted next-generation sequencing in chronic lymphocytic leukemia: a high-throughput yet tailored approach will facilitate implementation in a clinical setting.

Sutton LA, Ljungström V, Mansouri L, Young E, Cortese D, Navrkalova V, Malcikova J, Muggen AF, Trbusek M, Panagiotidis P, Davi F, Belessi C, Langerak AW, Ghia P, Pospisilova S, Stamatopoulos K, Rosenquist R.

Haematologica. 2015 Mar;100(3):370-6. doi: 10.3324/haematol.2014.109777. Epub 2014 Dec 5.

19.

The impact of SF3B1 mutations in CLL on the DNA-damage response.

Te Raa GD, Derks IA, Navrkalova V, Skowronska A, Moerland PD, van Laar J, Oldreive C, Monsuur H, Trbusek M, Malcikova J, Lodén M, Geisler CH, Hüllein J, Jethwa A, Zenz T, Pospisilova S, Stankovic T, van Oers MH, Kater AP, Eldering E.

Leukemia. 2015 May;29(5):1133-42. doi: 10.1038/leu.2014.318. Epub 2014 Nov 5.

PMID:
25371178
20.

Detailed analysis of therapy-driven clonal evolution of TP53 mutations in chronic lymphocytic leukemia.

Malcikova J, Stano-Kozubik K, Tichy B, Kantorova B, Pavlova S, Tom N, Radova L, Smardova J, Pardy F, Doubek M, Brychtova Y, Mraz M, Plevova K, Diviskova E, Oltova A, Mayer J, Pospisilova S, Trbusek M.

Leukemia. 2015 Apr;29(4):877-85. doi: 10.1038/leu.2014.297. Epub 2014 Oct 28.

21.

Assessment of TP53 functionality in chronic lymphocytic leukaemia by different assays; an ERIC-wide approach.

Te Raa GD, Malčiková J, Mraz M, Trbusek M, Le Garff-Tavernier M, Merle-Béral H, Greil R, Merkel O, Pospíšilová S, Lin K, Pettitt AR, Stankovic T, van Oers MH, Eldering E, Stilgenbauer S, Zenz T, Kater AP; European Research Initiative on CLL (ERIC).

Br J Haematol. 2014 Nov;167(4):565-9. doi: 10.1111/bjh.13006. Epub 2014 Jun 30. No abstract available.

PMID:
24975017
22.

Distinct in vitro sensitivity of p53-mutated and ATM-mutated chronic lymphocytic leukemia cells to ofatumumab and rituximab.

Sebejova L, Borsky M, Jaskova Z, Potesil D, Navrkalova V, Malcikova J, Sramek M, Doubek M, Loja T, Pospisilova S, Mayer J, Trbusek M.

Exp Hematol. 2014 Oct;42(10):867-74.e1. doi: 10.1016/j.exphem.2014.06.003. Epub 2014 Jun 23.

PMID:
24970561
23.

The frequency of TP53 gene defects differs between chronic lymphocytic leukaemia subgroups harbouring distinct antigen receptors.

Malcikova J, Stalika E, Davis Z, Plevova K, Trbusek M, Mansouri L, Scarfò L, Baliakas P, Gardiner A, Sutton LA, Francova HS, Agathangelidis A, Anagnostopoulos A, Tracy I, Makris A, Smardova J, Ghia P, Belessi C, Gonzalez D, Rosenquist R, Oscier D, Pospisilova S, Stamatopoulos K.

Br J Haematol. 2014 Aug;166(4):621-5. doi: 10.1111/bjh.12893. Epub 2014 Apr 12. No abstract available.

PMID:
24725250
24.

TP53 aberrations in chronic lymphocytic leukemia.

Trbusek M, Malcikova J.

Adv Exp Med Biol. 2013;792:109-31. doi: 10.1007/978-1-4614-8051-8_5. Review.

PMID:
24014294
25.

The p53 pathway induction is not primarily dependent on Ataxia Telangiectasia Mutated (ATM) gene activity after fludarabine treatment in chronic lymphocytic leukemia cells.

Navrkalova V, Sebejova L, Zemanova J, Jaskova Z, Trbusek M.

Leuk Lymphoma. 2013 Aug;54(8):1840-3. doi: 10.3109/10428194.2013.796056. Epub 2013 Jul 1.

PMID:
23808769
26.

Overview of available p53 function tests in relation to TP53 and ATM gene alterations and chemoresistance in chronic lymphocytic leukemia.

te Raa GD, Malcikova J, Pospisilova S, Trbusek M, Mraz M, Garff-Tavernier ML, Merle-Béral H, Lin K, Pettitt AR, Merkel O, Stankovic T, van Oers MH, Eldering E, Stilgenbauer S, Zenz T, Kater AP; European Research Initiative on CLL (ERIC).

Leuk Lymphoma. 2013 Aug;54(8):1849-53. doi: 10.3109/10428194.2013.796058. Epub 2013 Jun 24. Review.

PMID:
23614766
27.

ATM mutations uniformly lead to ATM dysfunction in chronic lymphocytic leukemia: application of functional test using doxorubicin.

Navrkalova V, Sebejova L, Zemanova J, Kminkova J, Kubesova B, Malcikova J, Mraz M, Smardova J, Pavlova S, Doubek M, Brychtova Y, Potesil D, Nemethova V, Mayer J, Pospisilova S, Trbusek M.

Haematologica. 2013 Jul;98(7):1124-31. doi: 10.3324/haematol.2012.081620. Epub 2013 Apr 12.

28.

The outcome of chronic lymphocytic leukemia patients who relapsed after fludarabine, cyclophosphamide, and rituximab.

Panovská A, Smolej L, Lysák D, Brychtová Y, Šimkovič M, Motyčková M, Vodárek P, Lindtnerová M, Trbušek M, Malčíková J, Pospíšilová Š, Mayer J, Doubek M.

Eur J Haematol. 2013 Jun;90(6):479-85. doi: 10.1111/ejh.12106. Epub 2013 Apr 27.

PMID:
23506191
29.

The BCR-ABL1 T315I mutation and additional genomic aberrations are dominant genetic lesions associated with disease progression in patients with chronic myelogenous leukemia resistant to tyrosine kinase inhibitor therapy.

Malcikova J, Razga F, Jurcek T, Dvorakova D, Zackova D, Toskova M, Sebejova L, Smardova J, Oltova A, Vankova G, Jurackova L, Trbusek M, Pospisilova S, Mayer J, Racil Z.

Leuk Lymphoma. 2013 Sep;54(9):2083-7. doi: 10.3109/10428194.2012.762649. Epub 2013 Feb 1. No abstract available.

PMID:
23289360
30.

Gene expression profiling of acute graft-vs-host disease after hematopoietic stem cell transplantation.

Verner J, Kabathova J, Tomancova A, Pavlova S, Tichy B, Mraz M, Brychtova Y, Krejci M, Zdrahal Z, Trbusek M, Volejnikova J, Sedlacek P, Doubek M, Mayer J, Pospisilova S.

Exp Hematol. 2012 Nov;40(11):899-905.e5. doi: 10.1016/j.exphem.2012.06.011. Epub 2012 Jul 4.

PMID:
22771791
31.

ERIC recommendations on TP53 mutation analysis in chronic lymphocytic leukemia.

Pospisilova S, Gonzalez D, Malcikova J, Trbusek M, Rossi D, Kater AP, Cymbalista F, Eichhorst B, Hallek M, Döhner H, Hillmen P, van Oers M, Gribben J, Ghia P, Montserrat E, Stilgenbauer S, Zenz T; European Research Initiative on CLL (ERIC).

Leukemia. 2012 Jul;26(7):1458-61. doi: 10.1038/leu.2012.25. Epub 2012 Feb 2. Review.

PMID:
22297721
32.

Specific p53 mutations do not impact results of alemtuzumab therapy among patients with chronic lymphocytic leukemia.

Doubek M, Trbušek M, Malčíková J, Brychtová Y, Smardová J, Lochmanová J, Panovská A, Skuhrová Francová H, Mráz M, Tichý B, Sebejová L, Navrkalová V, Plevová K, Kuglík P, Mayer J, Pospíšilová S.

Leuk Lymphoma. 2012 Sep;53(9):1817-9. doi: 10.3109/10428194.2012.658794. Epub 2012 Mar 1. No abstract available.

PMID:
22263566
33.

MicroRNA-650 expression is influenced by immunoglobulin gene rearrangement and affects the biology of chronic lymphocytic leukemia.

Mraz M, Dolezalova D, Plevova K, Stano Kozubik K, Mayerova V, Cerna K, Musilova K, Tichy B, Pavlova S, Borsky M, Verner J, Doubek M, Brychtova Y, Trbusek M, Hampl A, Mayer J, Pospisilova S.

Blood. 2012 Mar 1;119(9):2110-3. doi: 10.1182/blood-2011-11-394874. Epub 2012 Jan 10.

34.

Missense mutations located in structural p53 DNA-binding motifs are associated with extremely poor survival in chronic lymphocytic leukemia.

Trbusek M, Smardova J, Malcikova J, Sebejova L, Dobes P, Svitakova M, Vranova V, Mraz M, Francova HS, Doubek M, Brychtova Y, Kuglik P, Pospisilova S, Mayer J.

J Clin Oncol. 2011 Jul 1;29(19):2703-8. doi: 10.1200/JCO.2011.34.7872. Epub 2011 May 23.

PMID:
21606432
35.

Selection of new TP53 mutations by therapy in chronic lymphocytic leukemia.

Trbusek M, Malcikova J, Mayer J.

Leuk Res. 2011 Jul;35(7):981-2. doi: 10.1016/j.leukres.2011.02.005. Epub 2011 Mar 3. No abstract available.

PMID:
21376395
36.

TP53 mutation profile in chronic lymphocytic leukemia: evidence for a disease specific profile from a comprehensive analysis of 268 mutations.

Zenz T, Vollmer D, Trbusek M, Smardova J, Benner A, Soussi T, Helfrich H, Heuberger M, Hoth P, Fuge M, Denzel T, Häbe S, Malcikova J, Kuglik P, Truong S, Patten N, Wu L, Oscier D, Ibbotson R, Gardiner A, Tracy I, Lin K, Pettitt A, Pospisilova S, Mayer J, Hallek M, Döhner H, Stilgenbauer S; European Research Initiative on CLL (ERIC).

Leukemia. 2010 Dec;24(12):2072-9. doi: 10.1038/leu.2010.208. Epub 2010 Sep 23.

PMID:
20861914
37.

High expression of lymphocyte-activation gene 3 (LAG3) in chronic lymphocytic leukemia cells is associated with unmutated immunoglobulin variable heavy chain region (IGHV) gene and reduced treatment-free survival.

Kotaskova J, Tichy B, Trbusek M, Francova HS, Kabathova J, Malcikova J, Doubek M, Brychtova Y, Mayer J, Pospisilova S.

J Mol Diagn. 2010 May;12(3):328-34. doi: 10.2353/jmoldx.2010.090100. Epub 2010 Mar 12.

38.

Analysis of the DNA-binding activity of p53 mutants using functional protein microarrays and its relationship to transcriptional activation.

Malcikova J, Tichy B, Damborsky J, Kabathova J, Trbusek M, Mayer J, Pospisilova S.

Biol Chem. 2010 Feb-Mar;391(2-3):197-205. doi: 10.1515/BC.2010.027.

PMID:
20128691
39.

Monoallelic and biallelic inactivation of TP53 gene in chronic lymphocytic leukemia: selection, impact on survival, and response to DNA damage.

Malcikova J, Smardova J, Rocnova L, Tichy B, Kuglik P, Vranova V, Cejkova S, Svitakova M, Skuhrova Francova H, Brychtova Y, Doubek M, Brejcha M, Klabusay M, Mayer J, Pospisilova S, Trbusek M.

Blood. 2009 Dec 17;114(26):5307-14. doi: 10.1182/blood-2009-07-234708. Epub 2009 Oct 22.

40.

Inactivation of p53 and amplification of MYCN gene in a terminal lymphoblastic relapse in a chronic lymphocytic leukemia patient.

Stano-Kozubik K, Malcikova J, Tichy B, Kotaskova J, Borsky M, Hrabcakova V, Francova H, Valaskova I, Bourkova L, Smardova J, Doubek M, Brychtova Y, Pospisilova S, Mayer J, Trbusek M.

Cancer Genet Cytogenet. 2009 Feb;189(1):53-8. doi: 10.1016/j.cancergencyto.2008.10.003.

PMID:
19167613
41.

miR-34a, miR-29c and miR-17-5p are downregulated in CLL patients with TP53 abnormalities.

Mraz M, Malinova K, Kotaskova J, Pavlova S, Tichy B, Malcikova J, Stano Kozubik K, Smardova J, Brychtova Y, Doubek M, Trbusek M, Mayer J, Pospisilova S.

Leukemia. 2009 Jun;23(6):1159-63. doi: 10.1038/leu.2008.377. Epub 2009 Jan 22. No abstract available.

PMID:
19158830
42.

Presence of heterozygous ATM deletion may not be critical in the primary response of chronic lymphocytic leukemia cells to fludarabine.

Cejkova S, Rocnova L, Potesil D, Smardova J, Novakova V, Chumchalova J, Zezulkova D, Borsky M, Doubek M, Brychtova Y, Pospisilova S, Klabusay M, Mayer J, Trbusek M.

Eur J Haematol. 2009 Feb;82(2):133-42. doi: 10.1111/j.1600-0609.2008.01177.x. Epub 2008 Nov 6.

PMID:
19018867
43.

Identification of somatic hypermutations in the TP53 gene in B-cell chronic lymphocytic leukemia.

Malcikova J, Smardova J, Pekova S, Cejkova S, Kotaskova J, Tichy B, Francova H, Doubek M, Brychtova Y, Janek D, Pospisilova S, Mayer J, Dvorakova D, Trbusek M.

Mol Immunol. 2008 Mar;45(5):1525-9. Epub 2007 Oct 24.

PMID:
17920683
44.

[Molecular genetic characterization of chronic lymphocytic leukemia aggressivity in Czech patients: a nucleotide variability of genes coding for heavy chain of immunoglobulin].

Kuhrová V, Francová H, Klimesová D, Brychtová Y, Doubek M, Trbusek M, Brejcha M, Dvoráková D, Mayer J.

Cas Lek Cesk. 2006;145(11):855-8; discussion 859-60. Czech.

PMID:
17168419
45.

Inactivation of p53 and deletion of ATM in B-CLL patients in relation to IgVH mutation status and previous treatment.

Trbusek M, Malcikova J, Smardova J, Kuhrova V, Mentzlova D, Francova H, Bukovska S, Svitakova M, Kuglik P, Linkova V, Doubek M, Brychtova Y, Zacal J, Kujickova J, Pospisilova S, Dvorakova D, Vorlicek J, Mayer J.

Leukemia. 2006 Jun;20(6):1159-61. No abstract available.

PMID:
16572201
46.
47.
48.

5-Methylcytosine as a marker for the monitoring of DNA methylation.

Havlis J, Trbusek M.

J Chromatogr B Analyt Technol Biomed Life Sci. 2002 Dec 5;781(1-2):373-92.

PMID:
12450670
49.

Potent induction of wild-type p53-dependent transcription in tumour cells by a synthetic inhibitor of cyclin-dependent kinases.

Kotala V, Uldrijan S, Horky M, Trbusek M, Strnad M, Vojtesek B.

Cell Mol Life Sci. 2001 Aug;58(9):1333-9.

PMID:
11577989
50.

Galactosemia: deletion in the 5' upstream region of the GALT gene reduces promoter efficiency.

Trbusek M, Francová H, Kozák L.

Hum Genet. 2001 Jul;109(1):117-20.

PMID:
11479743

Supplemental Content

Loading ...
Support Center