Article
The majority of cases of neonatal diabetes in Spain can be explained by known genetic abnormalities.
Diabetic medicine : a journal of the British Diabetic Association - 1 Jul 2007
Rica I, Luzuriaga C, Pérez de Nanclares G, Estalella I, Aragonés A, Barrio R, Bilbao J R, Carlés C, Fernández C, Fernández J M, Fernández-Rebollo E, Gastaldo E, Giralt P, Gomez Vida J M, Gutiérrez A, López Siguero J P, Martínez-Aedo M J, Muñoz M, Prieto J, Rodrigo J, Vargas F, Castano L
Abstract excerpt
BACKGROUND: Neonatal diabetes is a rare disease characterized by hyperglycaemia within the first 3 months of life and requiring insulin treatment; it can either be transient (TNDM) or permanent (PNDM). Alterations at band 6q24 and heterozygous activating mutations in KCNJ11, the gene encoding the pore-forming subunit of the KATP channel, can cause neonatal diabetes. Aims We screened the 6q24 region, KCNJ11, GCK,...
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