Diabetes mellitus and other pathology in patients with INS and INSR mutations

Over 20 missense mutations and Y108X nonsense mutation in INS are dominant and induce synthesis of chimeric proteins that may interfere with folding and processing of all insulin molecules. In heterozygous state they cause insulin deficiency and PND. Over 10 recessive mutations and the p.Q62X nonsen...

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Autor principal: Yury Alexandrovich Pankov
Formato: article
Lenguaje:EN
RU
Publicado: Endocrinology Research Centre 2012
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Acceso en línea:https://doaj.org/article/9800dd6063a3485184508d8b36144cab
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