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GPRASP2, a novel causative gene mutated in an X-linked recessive syndromic hearing loss

BACKGROUND: A substantial amount of nuclear genes have been identified to be implicated in genetic hearing loss, while X-linked hearing loss is genetically heterogeneous and relatively infrequent. OBJECTIVE: To identify the causative gene mutation in a five-generation Chinese family with an X-linked...

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Detalles Bibliográficos
Autores principales: Xing, Guangqian, Yao, Jun, Liu, Chunyu, Wei, Qinjun, Qian, Xuli, Wu, Lingxin, Lu, Yajie, Cao, Xin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5502311/
https://www.ncbi.nlm.nih.gov/pubmed/28096187
http://dx.doi.org/10.1136/jmedgenet-2016-104320