Functional polymorphism in gamma-glutamylcarboxylase is a risk factor for severe neonatal hemorrhage.
J Pediatr
; 159(2): 347-9, 2011 Aug.
Article
em En
| MEDLINE
| ID: mdl-21704322
ABSTRACT
A neonate who received vitamin K (VK) supplementation then developed severe late-onset bleeding with abnormal prothrombin time and activated partial thromboplastine time. The bleeding was corrected after intravenous VK. Molecular analysis of the gamma-glutamylcarboxylase gene revealed a heterozygous single nucleotide polymorphism, which decreases carboxylase activity and induces VK-dependent coagulation deficiency.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Polimorfismo Genético
/
Vitamina K
/
DNA
/
Carbono-Carbono Ligases
/
Sangramento por Deficiência de Vitamina K
Tipo de estudo:
Etiology_studies
/
Risk_factors_studies
Limite:
Female
/
Humans
/
Newborn
Idioma:
En
Ano de publicação:
2011
Tipo de documento:
Article