Identification of Two Novel Compound Heterozygous PTPRQ Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family

Mutations in PTPRQ are associated with deafness in humans due to defects of stereocilia in hair cells. Using whole exome sequencing, we identified responsible gene of family 1572 with autosomal recessively non-syndromic hearing loss (ARNSHL). We also used DNA from 74 familial patients with ARNSHL an...

Descripción completa

Detalles Bibliográficos
Autores principales: Gao, Xue, Su, Yu, Chen, Yu-Lan, Han, Ming-Yu, Yuan, Yong-Yi, Xu, Jin-Cao, Xin, Feng, Zhang, Mei-Guang, Huang, Sha-Sha, Wang, Guo-Jian, Kang, Dong-Yang, Guan, Li-Ping, Zhang, Jian-Guo, Dai, Pu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4412678/
https://www.ncbi.nlm.nih.gov/pubmed/25919374
http://dx.doi.org/10.1371/journal.pone.0124757

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4412678/
https://www.ncbi.nlm.nih.gov/pubmed/25919374
http://dx.doi.org/10.1371/journal.pone.0124757

Ejemplares similares