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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. PubMed ID: 11686315 [Abstract] [Full Text] [Related]
3. Thirty-three novel mutations in the protein C gene. French INSERM network on molecular abnormalities responsible for protein C and protein S. Alhenc-Gelas M, Gandrille S, Aubry ML, Aiach M. Thromb Haemost; 2000 Jan; 83(1):86-92. PubMed ID: 10669160 [Abstract] [Full Text] [Related]
4. R147W mutation of PROC gene is common in venous thrombotic patients in Taiwanese Chinese. Tsay W, Shen MC. Am J Hematol; 2004 May; 76(1):8-13. PubMed ID: 15114590 [Abstract] [Full Text] [Related]
5. Alport syndrome. Molecular genetic aspects. Hertz JM. Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970 [Abstract] [Full Text] [Related]
6. Ectopic transcript analysis indicates that allelic exclusion is an important cause of type I protein C deficiency in patients with nonsense and frameshift mutations in the PROC gene. Soria JM, Berg LP, Fontcuberta J, Kakkar VV, Estivill X, Cooper DN, Sala N. Thromb Haemost; 1996 Jun; 75(6):870-6. PubMed ID: 8822578 [Abstract] [Full Text] [Related]
7. 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. PubMed ID: 7792728 [Abstract] [Full Text] [Related]
8. 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. PubMed ID: 8165644 [Abstract] [Full Text] [Related]
11. 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. PubMed ID: 8607097 [Abstract] [Full Text] [Related]
16. Compound heterozygosity in a family with protein C deficiency illustrating the complexity of the underlying molecular mechanism. Gandrille S, Jude B, Alhenc-Gelas M, Millaire A, Aiach M. Thromb Haemost; 1993 Nov 15; 70(5):747-52. PubMed ID: 8128429 [Abstract] [Full Text] [Related]
18. Protein C (PROC) gene mutations in two Indian families with purpura fulminans. Pai N, Shetty S, Ghosh K. Ann Hematol; 2010 Aug 15; 89(8):835-6. PubMed ID: 20077116 [No Abstract] [Full Text] [Related]
19. [Screening methods in genetic diagnosis of hereditary protein C deficiency]. Dávid M, Losonczy H, Nagy A, Kutscher G, Meyer M. Orv Hetil; 1999 Jan 17; 140(3):125-32. PubMed ID: 9990817 [Abstract] [Full Text] [Related]