Mutations in the VLGR1 Gene Implicate G-Protein Signaling in the Pathogenesis of Usher Syndrome Type II

Usher syndrome type II (USH2) is a genetically heterogeneous autosomal recessive disorder with at least three genetic subtypes (USH2A, USH2B, and USH2C) and is classified phenotypically as congenital hearing loss and progressive retinitis pigmentosa. The VLGR1 (MASS1) gene in the 5q14.3-q21.1 USH2C...

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Hlavní autoři: Weston, Michael D., Luijendijk, Mirjam W. J., Humphrey, Kurt D., Möller, Claes, Kimberling, William J.
Médium: Artigo
Jazyk:Inglês
Vydáno: The American Society of Human Genetics 2004
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1181933/
https://ncbi.nlm.nih.gov/pubmed/14740321
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