Continued Lessons from the INS Gene: An Intronic Mutation Causing Diabetes through a Novel Mechanism

BACKGROUND: Diabetes in neonates usually has a monogenic etiology; however, the cause remains unknown in 20–30%. Heterozygous INS mutations represent one of the most common gene causes of neonatal diabetes mellitus. METHODS: Clinical and functional characterization of a novel homozygous intronic mut...

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Publicado no:J Med Genet
Main Authors: Carmody, David, Park, Soo-Young, Ye, Honggang, Perrone, Marie E, Alkorta-Aranburu, G., Highland, Heather M, Hanis, Craig L, Philipson, Louis H, Bell, Graeme I, Greeley, Siri Atma W
Formato: Artigo
Idioma:Inglês
Publicado em: 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4744477/
https://ncbi.nlm.nih.gov/pubmed/26101329
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2015-103220
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