Genetic analysis of 10 pedigrees with inherited retinal degeneration by exome sequencing and phenotype-genotype association

Our purpose was to identify causative mutations and characterize the phenotype associated with the genotype in 10 unrelated families with autosomal recessive retinal degeneration. Ophthalmic evaluation and DNA isolation were carried out in 10 pedigrees with inherited retinal degenerations (IRD). Exo...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Physiol Genomics
Main Authors: Biswas, Pooja, Duncan, Jacque L., Maranhao, Bruno, Kozak, Igor, Branham, Kari, Gabriel, Luis, Lin, Jonathan H., Barteselli, Giulio, Navani, Mili, Suk, John, Parke, Michelle, Schlechter, Catherine, Weleber, Richard G., Heckenlively, John R., Dagnelie, Gislin, Lee, Pauline, Riazuddin, S. Amer, Ayyagari, Radha
Formato: Artigo
Idioma:Inglês
Publicado em: American Physiological Society 2017
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5407181/
https://ncbi.nlm.nih.gov/pubmed/28130426
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1152/physiolgenomics.00096.2016
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados