Mutations in OTOGL, Encoding the Inner Ear Protein Otogelin-like, Cause Moderate Sensorineural Hearing Loss

Hereditary hearing loss is characterized by a high degree of genetic heterogeneity. Here we present OTOGL mutations, a homozygous one base pair deletion (c.1430 delT) causing a frameshift (p.Val477Glufs(∗)25) in a large consanguineous family and two compound heterozygous mutations, c.547C>T (p.Ar...

Descrición completa

Gardado en:
Detalles Bibliográficos
Main Authors: Yariz, Kemal O., Duman, Duygu, Seco, Celia Zazo, Dallman, Julia, Huang, Mingqian, Peters, Theo A., Sirmaci, Asli, Lu, Na, Schraders, Margit, Skromne, Isaac, Oostrik, Jaap, Diaz-Horta, Oscar, Young, Juan I., Tokgoz-Yilmaz, Suna, Konukseven, Ozlem, Shahin, Hashem, Hetterschijt, Lisette, Kanaan, Moien, Oonk, Anne M.M., Edwards, Yvonne J.K., Li, Huawei, Atalay, Semra, Blanton, Susan, DeSmidt, Alexandra A., Liu, Xue-Zhong, Pennings, Ronald J.E., Lu, Zhongmin, Chen, Zheng-Yi, Kremer, Hannie, Tekin, Mustafa
Formato: Artigo
Idioma:Inglês
Publicado: Elsevier 2012
Assuntos:
Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3487139/
https://ncbi.nlm.nih.gov/pubmed/23122586
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.09.011
Tags: Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!

Títulos similares