ロード中...

Mutation analysis in 24 French patients with glycogen storage disease type 1a.

Both alleles of 24 French glycogen storage disease type 1a patients were sequenced: 14 different mutations allowed the identification of complete genotypes for all the patients. Nine new gene alterations are reported. Five mutations, Q347X, R83C, D38V, G188R, and 158 del C, account for 75% of the mu...

詳細記述

保存先:
書誌詳細
主要な著者: Chevalier-Porst, F, Bozon, D, Bonardot, A M, Bruni, N, Mithieux, G, Mathieu, M, Maire, I
フォーマット: Artigo
言語:Inglês
出版事項: 1996
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050601/
https://ncbi.nlm.nih.gov/pubmed/8733042
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!