A novel frameshift mutation Gly239Serfs*8 in the PROC gene results in protein C deficiency in a Korean patient-Reference-Cited by-同舟云学术

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A novel frameshift mutation Gly239Serfs*8 in the PROC gene results in protein C deficiency in a Korean patient

Published:2012-05-16 Issue:11 Volume:91 Page:1829-1830
ISSN:0939-5555
Container-title:Annals of Hematology
language:en
Short-container-title:Ann Hematol

Author:

Park Sang Hyuk,Jang Seongsoo,Yang Hye-Kyung,Shim Hyoeun,Park Chan-Jeoung,Chi Hyun-Sook,Oh Yeon-Mok

Publisher

Springer Science and Business Media LLC

Subject

Hematology,General Medicine

Link

http://link.springer.com/content/pdf/10.1007/s00277-012-1484-4.pdf

Reference4 articles.

1. Esmon C (2000) The protein C pathway. Crit Care Med 28:44–48

2. Foster DCYS, Davie EW (1985) The nucleotide sequence of the gene for human protein C. Proc Natl Acad Sci U S A 82:4673–4677

3. Reitsma PH, Bernardi F, Doig RG et al (1995) Protein C deficiency: a database of mutations, 1995 update. On behalf of the Subcommittee on Plasma Coagulation Inhibitors of the Scientific and Standardization Committee of the ISTH. Thromb Haemost 73:876–889

4. Kim HJ, Kim DK, Koh KC, Kim JY, Kim SH (2008) Severe protein C deficiency from compound heterozygous mutations in the PROC gene in two Korean adult patients. Thromb Res 123:412–417

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A novel mutation c.1048A>T at codon 350(Lys>Stop) in PROC gene causing neonatal purpura fulminans;Blood Coagulation & Fibrinolysis;2013-12

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