A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss

Mutations in the GJB2 gene encoding connexin26 (CX26) account for up to 50% of cases of autosomal recessive hearing loss. In contrast, only one GJB2 mutation has been reported to date in an autosomal dominant form of isolated prelingual hearing loss. We report here a novel heterozygous 605G→T mutati...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Hauptverfasser: Morle, L., Bozon, M., Alloisio, N., Latour, P., Vandenberghe, A., Plauchu, H., Collet, L., Edery, P., Godet, J., Lina-Granade, G.
Format: Artigo
Sprache:Inglês
Veröffentlicht: BMJ Group 2000
Schlagworte:
Short Report
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734593/
https://ncbi.nlm.nih.gov/pubmed/10807696
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.37.5.368
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge