A novel dominant missense mutation--D179N--in the GJB2 gene (Connexin 26) associated with non-syndromic hearing loss.

Primignani, P; Castorina, P; Sironi, F; Curcio, C; Ambrosetti, U; Coviello, D A

Primignani, P; Castorina, P; Sironi, F; Curcio, C; Ambrosetti, U; Coviello, D A.

Affiliation

Primignani P; Dipartimento di Medicina di Laboratorio-Laboratorio di Genetica Medica, A.O. Istituti Clinici di Perfezionamento, Milan, Italy.

Clin Genet ; 63(6): 516-21, 2003 Jun.

Article in En | MEDLINE | ID: mdl-12786758

Subject(s)

Connexins/genetics; Genes, Dominant; Hearing Loss/genetics; Mutation, Missense; Amino Acid Substitution; Connexin 26; Connexin 30; Connexins/metabolism; DNA Mutational Analysis; Female; Hearing Loss/physiopathology; Humans; Male; Pedigree

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Collection: 01-internacional Database: MEDLINE Main subject: Connexins / Mutation, Missense / Genes, Dominant / Hearing Loss Type of study: Risk_factors_studies Limits: Female / Humans / Male Language: En Journal: Clin Genet Year: 2003 Document type: Article

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