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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

Las mutaciones de la línea germinal en los genes dentro de la vía MAPK causan el síndrome cardiofaciocutáneo

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
Resumen

El síndrome cardio-facio-cutáneo (CFC) es causado por mutaciones en la vía MAPK, principalmente BRAF. Esta investigación identifica las causas genéticas del síndrome de CFC, ayudando al diagnóstico molecular.

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