Structural and Functional Study of the GlnB22-Insulin Mutant Responsible for Maturity-Onset Diabetes of the Young

The insulin gene mutation c.137G>A (R46Q), which changes an arginine at the B22 position of the mature hormone to glutamine, causes the monogenic diabetes variant maturity-onset diabetes of the young (MODY). In MODY patients, this mutation is heterozygous, and both mutant and wild-type (WT) human...

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Publicado en:PLoS One
Main Authors: Křížková, Květoslava, Veverka, Václav, Maletínská, Lenka, Hexnerová, Rozálie, Brzozowski, Andrzej M., Jiráček, Jiří, Žáková, Lenka
Formato: Artigo
Idioma:Inglês
Publicado: Public Library of Science 2014
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Research Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4244080/
https://ncbi.nlm.nih.gov/pubmed/25423173
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0112883
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