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Updated: Jul 4, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Published on: August 20, 2019

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ADAM19分裂了PTH受体,并与E型甲状腺素结合

Atakan Aydin1,2, Christoph Klenk3, Katarina Nemec1,3,4

  • 1Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany.

Life science alliance
|February 8, 2024
PubMed
概括

基因分析发现了一个截断的ADAM19基因变异,导致E型Brachydactyly (BDE). 这种突变破坏了ADAM19的功能.

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