Hyperinsulinism of infancy associated with a novel splice site mutation in the SCHAD gene.
J Pediatr
; 146(5): 706-8, 2005 May.
Article
em En
| MEDLINE
| ID: mdl-15870679
Fatty acids play an important role in regulating insulin secretion, but the mechanisms are unclear. We report a case of a novel splice site mutation in the short-chain 3-hydroxyacyl-CoA dehydrogenase (SCHAD) gene associated with hyperinsulinism. This mutation resulted in a nearly complete absence of immunoreactive protein and a decrease in fibroblast SCHAD activity.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
3-Hidroxiacil-CoA Desidrogenases
/
Hiperinsulinismo
Tipo de estudo:
Risk_factors_studies
Limite:
Humans
/
Infant
/
Male
Idioma:
En
Revista:
J Pediatr
Ano de publicação:
2005
Tipo de documento:
Article
País de publicação:
Estados Unidos