載入...

Mutations in the small nuclear riboprotein 200 kDa gene (SNRNP200) cause 1.6% of autosomal dominant retinitis pigmentosa

PURPOSE: The purpose of this project was to determine the spectrum and frequency of mutations in the small nuclear riboprotein 200 kDa gene (SNRNP200) that cause autosomal dominant retinitis pigmentosa (adRP). METHODS: A well-characterized adRP cohort of 251 families was tested for mutations in the...

全面介紹

Na minha lista:
書目詳細資料
Main Authors: Bowne, Sara J., Sullivan, Lori S., Avery, Cheryl E., Sasser, Elizabeth M., Roorda, Austin, Duncan, Jacque L., Wheaton, Dianna H., Birch, David G., Branham, Kari E., Heckenlively, John R., Sieving, Paul A., Daiger, Stephen P.
格式: Artigo
語言:Inglês
出版: Molecular Vision 2013
主題:
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC3850977/
https://ncbi.nlm.nih.gov/pubmed/24319334
標簽: 添加標簽
沒有標簽, 成為第一個標記此記錄!