Recurrent mutation, gene conversion, or recombination at the human phenylalanine hydroxylase locus: evidence in French-Canadians and a catalog of mutations.

The codon 408 mutation (CGG----TGG, Arg----Trp) in exon 12 of the phenylalanine hydroxylase (PAH) gene occurs on haplotype 1 in French-Canadians; elsewhere this mutation (R408W) occurs on haplotype 2. A CpG dinucleotide is involved. The finding is compatible with a recurrent mutation, gene conversio...

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Bibliographic Details
Main Authors: John, S W, Rozen, R, Scriver, C R, Laframboise, R, Laberge, C
Format: Artigo
Language:Inglês
Published: 1990
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Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683606/
https://ncbi.nlm.nih.gov/pubmed/1971147
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