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Items: 1 to 20 of 126

2.

Glanzmann's thrombasthenia due to a point mutation within intron 10 results in aberrant splicing of the beta3 gene.

Tanaka S, Hayashi T, Terada C, Hori Y, Han KS, Ahn HS, Bourre F, Tani Y.

J Thromb Haemost. 2003 Nov;1(11):2427-33.

3.

Novel mutations of integrin αIIb and β3 genes in Turkish children with Glanzmann's thrombasthenia.

Tokgoz H, Torun Ozkan D, Caliskan U, Akar N.

Platelets. 2015;26(8):779-82. doi: 10.3109/09537104.2014.998994. Epub 2015 Mar 3.

PMID:
25734216
4.

A Leu55 to Pro substitution in the integrin alphaIIb is responsible for a case of Glanzmann's thrombasthenia.

Tanaka S, Hayashi T, Hori Y, Terada C, Han KS, Ahn HS, Bourre F, Tani Y.

Br J Haematol. 2002 Sep;118(3):833-5.

PMID:
12181054
6.

Type I Glanzmann thrombasthenia caused by an apparently silent beta3 mutation that results in aberrant splicing and reduced beta3 mRNA.

Xie J, Pabón D, Jayo A, Butta N, González-Manchón C.

Thromb Haemost. 2005 May;93(5):897-903.

PMID:
15886806
7.

Clinical, biochemical, and molecular aspects of Glanzmann's thrombasthenia in humans and dogs.

Boudreaux MK, Lipscomb DL.

Vet Pathol. 2001 May;38(3):249-60. Review.

PMID:
11355654
8.

A novel Pro126His beta propeller mutation in integrin alphaIIb causes Glanzmann thrombasthenia by impairing progression of pro-alphaIIbbeta3 from endoplasmic reticulum to Golgi.

Shen WZ, Ding QL, Jin PP, Wang XF, Jiang YZ, Li SM, Wang HL.

Blood Cells Mol Dis. 2009 Jan-Feb;42(1):44-50. doi: 10.1016/j.bcmd.2008.08.005. Epub 2008 Oct 30.

PMID:
18976939
9.

Type II Glanzmann thrombasthenia in a compound heterozygote for the alpha IIb gene. A novel missense mutation in exon 27.

Jayo A, Pabón D, Lastres P, Jiménez-Yuste V, González-Manchón C.

Haematologica. 2006 Oct;91(10):1352-9.

10.

A novel (288delC) mutation in exon 2 of GPIIb associated with type I Glanzmann's thrombasthenia.

Tao J, Arias-Salgado EG, González-Manchón C, Díaz-Cremades J, Ayuso MS, Parrilla R.

Br J Haematol. 2000 Oct;111(1):96-103.

PMID:
11091187
11.

A three amino acid deletion in glycoprotein IIIa is responsible for type I Glanzmann's thrombasthenia: importance of residues Ile325Pro326Gly327 for beta3 integrin subunit association.

Morel-Kopp MC, Kaplan C, Proulle V, Jallu V, Melchior C, Peyruchaud O, Aurousseau MH, Kieffer N.

Blood. 1997 Jul 15;90(2):669-77.

12.

Description of 10 new mutations in platelet glycoprotein IIb (alphaIIb) and glycoprotein IIIa (beta3) genes.

Vinciguerra C, Bordet JC, Beaune G, Grenier C, Dechavanne M, Négrier C.

Platelets. 2001 Dec;12(8):486-95.

PMID:
11798398
13.

Novel point mutations in the alphaIIb subunit (Phe289-->Ser, Glu324-->Lys and Gln747-->Pro) causing thrombasthenic phenotypes in four Japanese patients.

Ambo H, Kamata T, Handa M, Kawai Y, Oda A, Murata M, Takada Y, Ikeda Y.

Br J Haematol. 1998 Aug;102(3):829-40.

PMID:
9722314
14.

Molecular and genetic basis for thrombasthenic thrombopathia in otterhounds.

Boudreaux MK, Catalfamo JL.

Am J Vet Res. 2001 Nov;62(11):1797-804.

PMID:
11703027
15.
16.

Type I Glanzmann's thrombasthenia in a Great Pyrenees dog.

Boudreaux MK, Kvam K, Dillon AR, Bourne C, Scott M, Schwartz KA, Toivio-Kinnucan M.

Vet Pathol. 1996 Sep;33(5):503-11.

PMID:
8885176
17.

Expanding the Mutation Spectrum Affecting αIIbβ3 Integrin in Glanzmann Thrombasthenia: Screening of the ITGA2B and ITGB3 Genes in a Large International Cohort.

Nurden AT, Pillois X, Fiore M, Alessi MC, Bonduel M, Dreyfus M, Goudemand J, Gruel Y, Benabdallah-Guerida S, Latger-Cannard V, Négrier C, Nugent D, Oiron RD, Rand ML, Sié P, Trossaert M, Alberio L, Martins N, Sirvain-Trukniewicz P, Couloux A, Canault M, Fronthroth JP, Fretigny M, Nurden P, Heilig R, Vinciguerra C.

Hum Mutat. 2015 May;36(5):548-61. doi: 10.1002/humu.22776.

18.
19.

AlphaIIbbeta3 integrin: new allelic variants in Glanzmann thrombasthenia, effects on ITGA2B and ITGB3 mRNA splicing, expression, and structure-function.

Jallu V, Dusseaux M, Panzer S, Torchet MF, Hezard N, Goudemand J, de Brevern AG, Kaplan C.

Hum Mutat. 2010 Mar;31(3):237-46. doi: 10.1002/humu.21179.

20.

Glanzmann's thrombasthenia: updated.

Nair S, Ghosh K, Kulkarni B, Shetty S, Mohanty D.

Platelets. 2002 Nov;13(7):387-93. Review.

PMID:
12487785

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