Identification of novel mutations by targeted exome sequencing and the genotype-phenotype assessment of patients with achromatopsia

BACKGROUND: Achromatopsia (ACHM) is a severe congenital autosomal recessive retinal disorder caused by loss of cone photoreceptors. Here, we aimed to determine the underlying genetic lesions and phenotypic correlations in two Chinese families with ACHM. METHODS: Medical history and clinical evaluati...

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Detalles Bibliográficos
Autores principales: Li, Fen-Fen, Huang, Xiu-Feng, Chen, Jie, Yu, Xu-Dong, Zheng, Mei-Qin, Lu, Fan, Jin, Zi-Bing, Gan, De-Kang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4618873/
https://www.ncbi.nlm.nih.gov/pubmed/26493561
http://dx.doi.org/10.1186/s12967-015-0694-7

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