| Literature DB >> 15644838 |
J R Porter1, N J Shaw, T G Barrett, A T Hattersley, S Ellard, A L Gloyn.
Abstract
We describe a novel homozygous missense glucokinase mutation (R397L) resulting in insulin-treated neonatal diabetes in an infant from a consanguineous Asian family. Both parents were heterozygous for R397L and had mild hyperglycemia. Glucokinase mutations should be considered in infants of all ethnic groups with neonatal diabetes and consanguinity.Entities:
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Year: 2005 PMID： 15644838 DOI： 10.1016/j.jpeds.2004.09.008
Source DB: PubMed Journal: J Pediatr ISSN： 0022-3476 Impact factor: 4.406