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Single-strand conformation polymorphism for detection of mutations and base substitutions in phenylketonuria.

In the past few years, more than 20 different mutations have been reported in hyperphenylalaninemias. In southwestern Europe and Mediterranean countries, however, the mutant genotypes reported account for only a fraction (27%) of all mutant alleles at the phenylalanine hydroxylase (PAH) locus, and m...

詳細記述

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書誌詳細
主要な著者: Labrune, P, Melle, D, Rey, F, Berthelon, M, Caillaud, C, Rey, J, Munnich, A, Lyonnet, S
フォーマット: Artigo
言語:Inglês
出版事項: 1991
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683114/
https://ncbi.nlm.nih.gov/pubmed/2035532
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