Mosaic paternal uniparental isodisomy and an ABCC8 gene mutation in a patient with permanent neonatal diabetes and hemihypertrophy.

Mosaic paternal uniparental isodisomy and an ABCC8 gene mutation in a patient with permanent neonatal diabetes and hemihypertrophy.

OBJECTIVE: Activating mutations in the KCNJ11 and ABCC8 genes encoding the Kir6.2 and SUR1 subunits of the pancreatic ATP-sensitive K(+) channel are the most common cause of permanent neonatal diabetes. In contrast to KCNJ11, where only dominant heterozygous mutations have been identified, recessiv...

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Detalles Bibliográficos
Autores principales: Shield, J, Flanagan, SE, Mackay, D, Harries, L, Proks, P, Girard, C, Ashcroft, F, Temple, I, Ellard, S
Formato: Journal article
Lenguaje:English
Publicado: 2008

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