Cargando...

A Novel COL4A3 Mutation Causes Autosomal-Recessive Alport Syndrome in a Large Turkish Family

Background: Alport syndrome (AS) is a genetically heterogeneous disorder that is characterized by hematuria, progressive renal failure typically resulting in end-stage renal disease, sensorineural hearing loss, and variable ocular abnormalities. Only 15% of cases with AS are autosomal recessive and...

Descrición completa

Gardado en:
Detalles Bibliográficos
Main Authors: Uzak, Asli Subasioglu, Tokgoz, Bulent, Dundar, Munis, Tekin, Mustafa
Formato: Artigo
Idioma:Inglês
Publicado: Mary Ann Liebert, Inc. 2013
Assuntos:
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3582275/
https://ncbi.nlm.nih.gov/pubmed/23297803
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1089/gtmb.2012.0340
Tags: Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!