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Aldolase B mutations in Italian families affected by hereditary fructose intolerance.

Hereditary fructose intolerance (HFI) is an inborn error of metabolism caused by aldolase B deficiency. The aldolase B gene has been cloned and the following mutations causing HFI have been identified: A149P (a G----C transversion in exon 5), A174D (a C----A transversion in exon 5), L288 delta C (a...

詳細記述

保存先:
書誌詳細
出版年:J Med Genet
主要な著者: Sebastio, G, de Franchis, R, Strisciuglio, P, Andria, G, Dionisi Vici, C, Sabetta, G, Gatti, R, Cross, N C, Cox, T M
フォーマット: Artigo
言語:Inglês
出版事項: BMJ Publishing Group 1991
主題:
オンライン・アクセス:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1016824/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1856829/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.28.4.241
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