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Article

In vitro and in vivo correlations for I65T and M1V mutations at the phenylalanine hydroxylase locus.

Human mutation - 1 Jan 1992

John S W, Scriver C R, Laframboise R, Rozen R

Abstract excerpt

Mutations at the phenylalanine hydroxylase (PAH) locus are the major cause of hyperphenylalaninemia. We have previously described four mutations (M1V, IVS12nt1, R408W, and S349P) at the PAH locus in French Canadians with ancestry in eastern Quebec. Here we report (1) identification of another mutation, on a haplotype 9 chromosome, which converts codon 65 from isoleucine (ATT) to threonine (ACT), (2) expression...

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Identifiers

PMID: 1301201
DOI: 10.1002/humu.1380010210

Genes

PAH

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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