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Digenic heterozygous HNF1A and HNF4A mutations in two siblings with childhood-onset diabetes

Monogenic diabetes due to mutations in the transcription factor genes HNF1A and HNF4A is characterized by islet cell antibody negative, familial diabetes with residual insulin secretion. We report two sisters with childhood onset diabetes who are both heterozygous for the most common mutation in eac...

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Detalhes bibliográficos
Main Authors: Shankar, Roopa Kanakatti, Ellard, Sian, Standiford, Debra, Pihoker, Catherine, Gilliam, Lisa K., Hattersley, Andrew, Dolan, Lawrence M.
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4090307/
https://ncbi.nlm.nih.gov/pubmed/23551881
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/pedi.12018
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