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Whole Genome Sequencing Revealed Mutations in Two Independent Genes as the Underlying Cause of Retinal Degeneration in an Ashkenazi Jewish Pedigree

Retinitis pigmentosa (RP) causes progressive photoreceptor loss resulting from mutations in over 80 genes. This study identified the genetic cause of RP in three members of a non-consanguineous pedigree. Detailed ophthalmic evaluation was performed in the three affected family members. Whole exome s...

詳細記述

保存先:
書誌詳細
出版年:Genes (Basel)
主要な著者: Gustafson, Kevin, Duncan, Jacque L., Biswas, Pooja, Soto-Hermida, Angel, Matsui, Hiroko, Jakubosky, David, Suk, John, Telenti, Amalio, Frazer, Kelly A., Ayyagari, Radha
フォーマット: Artigo
言語:Inglês
出版事項: MDPI 2017
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC5615344/
https://ncbi.nlm.nih.gov/pubmed/28837078
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes8090210
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