Hyperinsulinism: molecular aetiology of focal disease

Persistent hypoglycaemia in infancy is most commonly caused by hyperinsulinism. A case is reported of the somatic loss of the maternal 11p in an insulin secreting focal adenoma in association with a germline SUR-1 mutation on the paternal allele in a baby boy with hyperinsulinism diagnosed at 49 day...

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Main Authors: Ryan, F, Devaney, D, Joyce, C, Nestorowicz, A, Permutt, M, Glaser, B, Barton, D, Thornton, P
Format: Artigo
Jezik:Inglês
Izdano: BMJ Group 1998
Teme:
Original Articles
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC1717743/
https://ncbi.nlm.nih.gov/pubmed/10193261
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