Founder mutation Arg485Pro led to recurrent compound heterozygous GGCX genotypes in two German patients with VKCFD type 1.

Rost, Simone

Founder mutation Arg485Pro led to recurrent compound heterozygous GGCX genotypes in two German patients with VKCFD type 1. [electronic resource] - Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis Sep 2006 - 503-7 p. digital

Publication Type: Case Reports; Journal Article

0957-5235

10.1097/01.mbc.0000240927.88177.d1 doi


Adult
Carbon-Carbon Ligases--genetics
Conserved Sequence--genetics
Female
Founder Effect
Haplotypes--genetics
Humans
Infant
Male
Mixed Function Oxygenases--deficiency
Sequence Analysis, DNA
Vitamin K--administration & dosage
Vitamin K Epoxide Reductases