Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance

Finding new causes of monogenic diabetes helps understand glycaemic regulation in humans. To find novel genetic causes of maturity-onset diabetes of the young (MODY), we sequenced MODY cases with unknown aetiology and compared variant frequencies to large public databases. From 36 European patients,...

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Vydáno v:Nat Commun
Hlavní autoři: Patel, Kashyap A., Kettunen, Jarno, Laakso, Markku, Stančáková, Alena, Laver, Thomas W., Colclough, Kevin, Johnson, Matthew B., Abramowicz, Marc, Groop, Leif, Miettinen, Päivi J., Shepherd, Maggie H., Flanagan, Sarah E., Ellard, Sian, Inagaki, Nobuya, Hattersley, Andrew T., Tuomi, Tiinamaija, Cnop, Miriam, Weedon, Michael N.
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group UK 2017
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5638866/
https://ncbi.nlm.nih.gov/pubmed/29026101
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41467-017-00895-9
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