ロード中...

Identification of a SLC19A2 nonsense mutation in Persian families with thiamine-responsive megaloblastic anemia

Thiamine-responsive megaloblastic anemia (TRMA) is an autosomal recessive syndrome characterized by early-onset anemia, diabetes, and hearing loss caused by mutations in the SLC19A2 gene. We studied the genetic cause and clinical features of this condition in patients from the Persian population. A...

詳細記述

保存先:
書誌詳細
主要な著者: Setoodeh, Aria, Haghighi, Amirreza, Saleh-Gohari, Nasrollah, Ellard, Sian, Haghighi, Alireza
フォーマット: Artigo
言語:Inglês
出版事項: Elsevier/North-Holland 2013
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3725413/
https://ncbi.nlm.nih.gov/pubmed/23454484
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.gene.2013.02.008
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!