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Updated: Jul 11, 2026

Mutagenesis and Analysis of Genetic Mutations in the GC-rich KISS1 Receptor Sequence Identified in Humans with Reproductive Disorders
12:49

Mutagenesis and Analysis of Genetic Mutations in the GC-rich KISS1 Receptor Sequence Identified in Humans with Reproductive Disorders

Published on: September 4, 2011

在MAPK通路内的基因的生殖基因突变会导致心肌皮肤综合征

Pablo Rodriguez-Viciana1, Osamu Tetsu, William E Tidyman

  • 1Comprehensive Cancer Center and Cancer Research Institute, University of California, San Francisco, CA 94115, USA.

Science (New York, N.Y.)
|January 28, 2006
PubMed
概括

心脏-面部-皮肤 (CFC) 综合征是由MAPK通路的突变引起的,主要是BRAF. 这项研究确定了CFC综合征的遗传原因,有助于分子诊断.

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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

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Mutations

Overview
Mutations01:35

Mutations

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MAPK Signaling Cascades

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