A Novel Hypomorphic PDX1 Mutation Responsible for Permanent Neonatal Diabetes With Subclinical Exocrine Deficiency

OBJECTIVE: Genes responsible for monogenic forms of diabetes have proven very valuable for understanding key mechanisms involved in β-cell development and function. Genetic study of selected families is a powerful strategy to identify such genes. We studied a consanguineous family with two first cou...

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Detaylı Bibliyografya
Asıl Yazarlar: Nicolino, Marc, Claiborn, Kathryn C., Senée, Valérie, Boland, Anne, Stoffers, Doris A., Julier, Cécile
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: American Diabetes Association 2010
Konular:
Original Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC2828654/
https://ncbi.nlm.nih.gov/pubmed/20009086
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2337/db09-1284
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