Compound heterozygosity of novel missense mutations in the gamma-glutamyl-carboxylase gene causes hereditary combined vitamin K-dependent coagulation factor deficiency

Blood

Volumn 108, Issue 6, 2006, Pages 1925-1931

  Darghouth, Dhouha ^b   Hallgren, Kevin W ^b   Shtofman, Rebecca L ^b   Mrad, Amel ^b   Gharbi, Youssef ^b   Maherzi, Ahmed ^b   Kastally, Radhia ^b   Lericousse, Sophie ^b   Berkner, Kathleen L ^b   Rosa, Jean Philippe ^a  

^a HÔPITAL LARIBOISIÈRE   (France)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ASPARTIC ACID; CARBOXYLASE; LYSINE; MENADIONE EPOXIDE; TRYPTOPHAN; VITAMIN K GROUP;

ARTICLE; BLOOD CLOTTING DISORDER; CARBOXYLATION; CASE REPORT; FEMALE; FIBRINOGEN DEFECT; GENE FUNCTION; GENE MUTATION; HEMOSTASIS; HETEROZYGOTE; HUMAN; MISSENSE MUTATION; NONHUMAN; PRESCHOOL CHILD; PRIORITY JOURNAL; SEQUENCE ANALYSIS; WILD TYPE;

EID: 33748693300     PISSN: 00064971     EISSN: 00064971     Source Type: Journal    
DOI: 10.1182/blood-2005-12-010660     Document Type: Article

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