Novel splice site mutations in the gamma glutamyl carboxylase gene in a child with congenital combined deficiency of the vitamin K-dependent coagulation factors (VKCFD).

Titapiwatanakun, Ruetima

Novel splice site mutations in the gamma glutamyl carboxylase gene in a child with congenital combined deficiency of the vitamin K-dependent coagulation factors (VKCFD). [electronic resource] - Pediatric blood & cancer Jul 2009 - 92-5 p. digital

Publication Type: Case Reports; Journal Article

1545-5017

10.1002/pbc.22011 doi


Blood Coagulation Factors--genetics
Carbon-Carbon Ligases--deficiency
Child
Coagulation Protein Disorders--congenital
Diagnosis, Differential
Humans
Male
Mixed Function Oxygenases--genetics
Munchausen Syndrome--diagnosis
Mutation
Polymorphism, Single Nucleotide
Vitamin K--administration & dosage
Vitamin K Deficiency--congenital
Vitamin K Epoxide Reductases