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Article

R75Q dominant mutation in GJB2 gene silenced by the in Cis recessive mutation c.35delG.

American journal of medical genetics. Part A - 1 Oct 2010

Iossa Sandra, Chinetti Viviana, Corvino Virginia, Marciano Elio, Franzè Annamaria

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20815033
DOI: 10.1002/ajmg.a.33630

Genes

GJB2

Provenance

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Related research

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R75Q dominant mutation in GJB2 gene silenced by the in Cis recessive mutation c.35delG.PMID 20815033Read ↗

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The pathogenesis of common Gjb2 mutations associated with human hereditary deafness in mice.Semantic proximity Read ↗

Three common GJB2 mutations causing nonsyndromic hearing loss in Chinese populations are retained in the endoplasmic reticulum.Semantic proximity Read ↗

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Congenital leukonychia caused by a mutation in GJB2.Semantic proximity Read ↗

Lethal form of keratitis-ichthyosis-deafness syndrome caused by the GJB2 mutation p.Ser17Phe.Semantic proximity Read ↗

[Analysis on mutations of GJB2 gene in Chinese population].Semantic proximity Read ↗

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