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Items: 1 to 20 of 111

1.

Type I protein C deficiency in French Canadians: evidence of a founder effect and association of specific protein C gene mutations with plasma protein C levels.

Couture P, Demers C, Morissette J, Delage R, Jomphe M, Couture L, Simard J.

Thromb Haemost. 1998 Oct;80(4):551-6.

PMID:
9798967
2.

Evidence of a founder effect for the protein C gene 3363 inserted C mutation in thrombophilic pedigrees of French origin.

Couture P, Bovill EG, Demers C, Simard J, Delage R, Scott BT, Valliere JE, Callas PW, Jomphe M, Rosendaal FR, Aiach M, Long GL.

Thromb Haemost. 2001 Oct;86(4):1000-6.

PMID:
11686315
3.
4.
6.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

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

PMID:
19728970
7.
8.

Six different point mutations in seven Danish families with symptomatic protein C deficiency.

Lind B, Schwartz M, Thorsen S.

Thromb Haemost. 1995 Feb;73(2):186-93.

PMID:
7792728
9.

Three missense mutations in the protein C heavy chain causing type I and type II protein C deficiency.

Miyata T, Zheng YZ, Sakata T, Tsushima N, Kato H.

Thromb Haemost. 1994 Jan;71(1):32-7.

PMID:
8165644
10.

Prevalence of genetic mutations in protein S, protein C and antithrombin genes in Japanese patients with deep vein thrombosis.

Miyata T, Sato Y, Ishikawa J, Okada H, Takeshita S, Sakata T, Kokame K, Kimura R, Honda S, Kawasaki T, Suehisa E, Tsuji H, Madoiwa S, Sakata Y, Kojima T, Murata M, Ikeda Y.

Thromb Res. 2009 May;124(1):14-8. doi: 10.1016/j.thromres.2008.08.020. Epub 2008 Oct 26.

PMID:
18954896
11.

Single founder mutation (W380G) in type II protein C deficiency in Finland.

Levo A, Kuismanen K, Holopainen P, Vahtera E, Rasi V, Holopainen P, Rasi V, Krusius T, Partanen J.

Thromb Haemost. 2000 Sep;84(3):424-8.

PMID:
11019966
12.

Genetic background analysis of protein C deficiency demonstrates a recurrent mutation associated with venous thrombosis in Chinese population.

Tang L, Guo T, Yang R, Mei H, Wang H, Lu X, Yu J, Wang Q, Hu Y.

PLoS One. 2012;7(4):e35773. doi: 10.1371/journal.pone.0035773. Epub 2012 Apr 24.

13.

Novel human pathological mutations. Gene symbol: PROC. Disease: Protein C deficiency.

Pathare A, Al Zadjali S, Shah W.

Hum Genet. 2009 Aug;126(2):336-7. No abstract available.

PMID:
19694010
14.

Severe type I protein C deficiency in a compound heterozygote for Y124C and Q132X mutations in exon 6 of the PROC gene.

Soria JM, Morell M, Jiménez-Astorga C, Estivill X, Sala N.

Thromb Haemost. 1995 Nov;74(5):1215-20.

PMID:
8607097
15.

Genetic background of type I protein C deficiency in Finland.

Kuismanen K, Levo A, Vahtera E, Rasi V, Labrouche S, Freyburger G, Krusius T, Partanen J.

Thromb Res. 2006;118(5):603-9. Epub 2005 Dec 19.

PMID:
16360797
16.

Protein C and protein S assessment in hospital laboratories: which strategy and what role for DNA sequencing?

Labrouche S, Reboul MP, Guérin V, Vergnes C, Freyburger G.

Blood Coagul Fibrinolysis. 2003 Sep;14(6):531-8.

PMID:
12960605
17.

Severe perinatal thrombosis in double and triple heterozygous offspring of a family segregating two independent protein S mutations and a protein C mutation.

Formstone CJ, Hallam PJ, Tuddenham EG, Voke J, Layton M, Nicolaides K, Hann IM, Cooper DN.

Blood. 1996 May 1;87(9):3731-7.

PMID:
8611698
18.

Genetic mutations in ten unrelated American patients with symptomatic type 1 protein C deficiency.

Tsay W, Greengard JS, Montgomery RR, McPherson RA, Fucci JC, Koerper MA, Coughlin J, Griffin JH.

Blood Coagul Fibrinolysis. 1993 Oct;4(5):791-6.

PMID:
8292730
19.
20.

Familial thrombophilia is an oligogenetic disease: involvement of the prothrombin G20210A, PROC and PROS gene mutations.

Boinot C, Borgel D, Kitzis A, Guicheteau M, Aiach M, Alhenc-Gelas M.

Blood Coagul Fibrinolysis. 2003 Feb;14(2):191-6.

PMID:
12632031

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