Identification of a novel MYO7A mutation in Usher syndrome type 1

Usher syndrome (USH) is an autosomal recessive disease characterized by deafness and retinitis pigmentosa. In view of the high phenotypic and genetic heterogeneity in USH, performing genetic screening with traditional methods is impractical. In the present study, we carried out targeted next-generat...

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Detalles Bibliográficos
Autores principales: Cheng, Ling, Yu, Hongsong, Jiang, Yan, He, Juan, Pu, Sisi, Li, Xin, Zhang, Li
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Impact Journals LLC 2017
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5788640/
https://www.ncbi.nlm.nih.gov/pubmed/29416772
http://dx.doi.org/10.18632/oncotarget.23408

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5788640/
https://www.ncbi.nlm.nih.gov/pubmed/29416772
http://dx.doi.org/10.18632/oncotarget.23408

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