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Items: 1 to 20 of 372

1.

Detection and characterization of seven novel protein S (PROS) gene lesions: evaluation of reverse transcript-polymerase chain reaction as a mutation screening strategy.

Formstone CJ, Wacey AI, Berg LP, Rahman S, Bevan D, Rowley M, Voke J, Bernardi F, Legnani C, Simioni P, Girolami A, Tuddenham EG, Kakkar VV, Cooper DN.

Blood. 1995 Oct 1;86(7):2632-41.

2.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

Dan Med Bull. 2009 Aug;56(3):105-52.

PMID:
19728970
3.

Occurrence of multiple aberrantly spliced mRNAs of the LDL-receptor gene upon a donor splice site mutation that causes familial hypercholesterolemia (FHBenevento).

Lelli N, Garuti R, Ghisellini M, Tiozzo R, Rolleri M, Aimale V, Ginocchio E, Naselli A, Bertolini S, Calandra S.

J Lipid Res. 1995 Jun;36(6):1315-24.

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5.

Two mutations in exon XII of the protein S alpha gene in four thrombophilic families resulting in premature stop codons and depressed levels of mutated mRNA.

Andersen BD, Lind B, Philips M, Hansen AB, Ingerslev J, Thorsen S.

Thromb Haemost. 1996 Aug;76(2):143-50.

PMID:
8865520
6.

Analysis for heterozygosity of protein S mRNA: application to genetic screening and family studies in hereditary protein S deficiency.

Yamazaki T, Hamaguchi M, Takamatsu J, Okamoto Y, Katsumi A, Kagami K, Sugiura I, Kojima T, Saito H.

Int J Hematol. 1996 Aug;64(2):119-25.

PMID:
8854569
8.

Identification of protein Salpha gene mutations including four novel mutations in eight unrelated patients with protein S deficiency.

Okada H, Takagi A, Murate T, Adachi T, Yamamoto K, Matsushita T, Takamatsu J, Sugita K, Sugimoto M, Yoshioka A, Yamazaki T, Saito H, Kojima T.

Br J Haematol. 2004 Jul;126(2):219-25.

PMID:
15238143
9.

Three novel missense mutations in unrelated Japanese patients with type I and type II protein S deficiency and venous thrombosis.

Fujimura H, Kambayashi J, Kato H, Sakon M, Kawasaki T, Ariyoshi H, Suehisa E, Monden M, Miyata T.

Thromb Res. 1998 Feb 15;89(4):151-60.

PMID:
9651142
11.
12.

One novel and one recurrent mutation in the PROS1 gene cause type I protein S deficiency in patients with pulmonary embolism associated with deep vein thrombosis.

Mizukami K, Nakabayashi T, Naitoh S, Takeda M, Tarumi T, Mizoguchi I, Ieko M, Koike T.

Am J Hematol. 2006 Oct;81(10):787-97.

13.
14.

Identification of eight point mutations in protein S deficiency type I--analysis of 15 pedigrees.

Gómez E, Poort SR, Bertina RM, Reitsma PH.

Thromb Haemost. 1995 May;73(5):750-5.

PMID:
7482398
15.

A quantitative protein S deficiency associated with a novel nonsense mutation and markedly reduced levels of mutated mRNA.

Yamazaki T, Hamaguchi M, Katsumi A, Kagami K, Kojima T, Takamatsu J, Saito H.

Thromb Haemost. 1995 Aug;74(2):590-5.

PMID:
8584989
16.
17.

Aberrantly spliced mRNAs of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene with a donor splice-site point mutation produce hereditary HL deficiency.

Buesa C, Pié J, Barceló A, Casals N, Mascaró C, Casale CH, Haro D, Duran M, Smeitink JA, Hegardt FG.

J Lipid Res. 1996 Nov;37(11):2420-32.

18.

A novel G-to-A mutation in the intron-N of the protein S gene leading to abnormal RNA splicing in a patient with protein S deficiency.

D'Andrea G, Di Perna P, Brancaccio V, Faioni EM, Castaman G, Cibelli G, Di Minno G, Margaglione M; Protein S Italian Team..

Haematologica. 2003 Apr;88(4):459-64.

19.

Protein S deficiency type I: identification of point mutations in 9 of 10 families.

Mustafa S, Pabinger I, Mannhalter C.

Blood. 1995 Nov 1;86(9):3444-51.

20.

A novel splice acceptor site mutation of protein S gene in affected individuals with type I protein S deficiency: allelic exclusion of the mutant gene.

Nakahara M, Iida H, Urata M, Fujise M, Wakiyama M, Kinoshita S, Tsuda H, Okamura T, Yao K, Yao T, Hamasaki N.

Thromb Res. 2001 Mar 1;101(5):387-93.

PMID:
11297755
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