Compound heterozygous mutations in the gamma-glutamyl carboxylase gene cause combined deficiency of all vitamin K-dependent blood coagulation factors.

Rost, Simone

Compound heterozygous mutations in the gamma-glutamyl carboxylase gene cause combined deficiency of all vitamin K-dependent blood coagulation factors. [electronic resource] - British journal of haematology Aug 2004 - 546-9 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

0007-1048

10.1111/j.1365-2141.2004.05071.x doi


Amino Acid Sequence
Animals
Carbon-Carbon Ligases--genetics
Coagulation Protein Disorders--genetics
Heterozygote
Humans
Infant
Male
Molecular Sequence Data
Mutation
Mutation, Missense
Point Mutation
Polymorphism, Restriction Fragment Length
Sequence Alignment
Vitamin K--physiology