ロード中...

Biochemical and computational analyses of two phenotypically related GALT mutations (S222N and S135L) that lead to atypical galactosemia

Galactosemia is a metabolic disorder caused by mutations in the GALT gene [1,2]. We encountered a patient heterozygous for a known pathogenic H132Q mutation and a novel S222N variant of unknown significance [3]. Reminiscent of patients with the S135L mutation, our patient had loss of GALT enzyme act...

詳細記述

保存先:
書誌詳細
出版年:Data Brief
主要な著者: Cocanougher, Benjamin, Aypar, Umut, McDonald, Amber, Hasadsri, Linda, Bennett, Michael J., Edward Highsmith, W., D׳Aco, Kristin
フォーマット: Artigo
言語:Inglês
出版事項: Elsevier 2015
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4509990/
https://ncbi.nlm.nih.gov/pubmed/26217714
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.dib.2015.01.001
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!