ロード中...

Autosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations in SLC4A11

OBJECTIVE: To map and identify the gene for autosomal recessive congenital hereditary endothelial dystrophy (CHED2, OMIM 217700), a disorder characterised by diffuse bilateral corneal clouding that may lead to visual impairment and requiring corneal transplantation. METHODS: Members of 16 families w...

詳細記述

保存先:
書誌詳細
主要な著者: Jiao, Xiaodong, Sultana, Afia, Garg, Prashant, Ramamurthy, Balasubramanya, Vemuganti, Geeta K, Gangopadhyay, Nibaran, Hejtmancik, J Fielding, Kannabiran, Chitra
フォーマット: Artigo
言語:Inglês
出版事項: BMJ Group 2007
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC2597914/
https://ncbi.nlm.nih.gov/pubmed/16825429
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2006.044644
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!