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

Am J Med Genet A. 2010 Oct;152A(10):2658-60. doi: 10.1002/ajmg.a.33630.

Authors

Sandra Iossa¹, Viviana Chinetti, Virginia Corvino, Elio Marciano, Annamaria Franzè

Affiliation

¹ CEINGE-Biotecnologie Avanzate, Naples, Italy.

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

No abstract available

MeSH terms

Adult
Amino Acid Substitution
Connexin 26
Connexins / genetics*
Gene Silencing*
Genes, Dominant*
Genes, Recessive*
Hearing Loss / genetics*
Hearing Loss, Sensorineural / genetics*
Humans
Male
Mutation*
Pedigree

Substances

Connexins
GJB2 protein, human
Connexin 26