Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus

Background: Allele variants of COL11A2, encoding collagen type XI α2, cause autosomal dominant non-syndromic hearing loss (ARNSHL) at the DFNA13 locus (MIM 601868) and various syndromes that include a deafness phenotype. Objective: To describe a genome-wide scan carried out on a consanguineous Irani...

Description complète

Enregistré dans:
Détails bibliographiques
Auteurs principaux: Chen, W, Kahrizi, K, Meyer, N, Riazalhosseini, Y, Van Camp, G, Najmabadi, H, Smith, R
Format: Artigo
Langue:Inglês
Publié: BMJ Group 2005
Sujets:
Electronic Letter
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1735925/
https://ncbi.nlm.nih.gov/pubmed/16033917
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2005.032615
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!

Documents similaires