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Partial aldolase B gene deletions in hereditary fructose intolerance.

Hereditary fructose intolerance (HFI) is an autosomal recessive condition caused by a deficiency of aldolase B. We have recently shown that three point mutations in this gene account for approximately 85% of HFI alleles in Europe and the United States and are thus of diagnostic importance. In this p...

詳細記述

保存先:
書誌詳細
主要な著者: Cross, N C, Cox, T M
フォーマット: Artigo
言語:Inglês
出版事項: 1990
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683764/
https://ncbi.nlm.nih.gov/pubmed/2349937
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