ロード中...

A Nonsense Mutation in CRYBB1 Associated with Autosomal Dominant Cataract Linked to Human Chromosome 22q

Autosomal dominant cataract is a clinically and genetically heterogeneous lens disorder that usually presents as a sight-threatening trait in childhood. Here we have mapped dominant pulverulent cataract to the β-crystallin gene cluster on chromosome 22q11.2. Suggestive evidence of linkage was detect...

詳細記述

保存先:
書誌詳細
主要な著者: Mackay, Donna S., Boskovska, Olivera B., Knopf, Harry L. S., Lampi, Kirsten J., Shiels, Alan
フォーマット: Artigo
言語:Inglês
出版事項: The American Society of Human Genetics 2002
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC385100/
https://ncbi.nlm.nih.gov/pubmed/12360425
タグ: タグ追加
タグなし, このレコードへの初めてのタグを付けませんか!