A Founder Mutation in the POMC 5′-UTR Causes Proopiomelanocortin Deficiency Through Splicing-Mediated Decrease of mRNA

    Iuliia V. Viakhireva, Natalia Kalinchenko, Evgeny Vasilyev, Galina V Chistousova, Alexandra Filatova, Andrey V. Marakhonov, П. М. Рубцов, Mikhail Skoblov, Anatoly Tiulpakov
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    Studysummary This study identified a novel homozygous mutation in the 5'-UTR of the POMC gene, suggesting a new molecular mechanism for the syndrome of adrenal insufficiency, obesity, and red hair.
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