Cargando…
Targeted exome sequencing reveals novel USH2A mutations in Chinese patients with simplex Usher syndrome
BACKGROUND: Usher syndrome (USH) is an autosomal recessive disorder characterized by hearing impairment and vision dysfunction due to retinitis pigmentosa. Phenotypic and genetic heterogeneities of this disease make it impractical to obtain a genetic diagnosis by conventional Sanger sequencing. METH...
Autores principales: | , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2015
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4571113/ https://www.ncbi.nlm.nih.gov/pubmed/26377068 http://dx.doi.org/10.1186/s12881-015-0223-9 |