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Article

Molecular basis for phenotypic heterogeneity in galactosaemia: prediction of clinical phenotype from genotype in Japanese patients.

European journal of human genetics : EJHG - 1 Jan 2000

Hirokawa H, Okano Y, Asada M, Fujimoto A, Suyama I, Isshiki G

Abstract excerpt

We identified 14 mutations in 15 Japanese subjects from 13 families with galactose-1-phosphate uridyltransferase (GALT) deficiency using denaturing gradient gel electrophoresis (DGGE) and direct sequence analysis. These mutations accounted for 22 (96%) of 23 mutant alleles in 15 Japanese subjects. The mutational spectrum included nine missense mutations (M142V, G179D, A199T, R231H, W249R, N314D, P325L, R333Q, and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to UTP-Hexose-1-Phosphate Uridylyltransferase

Source

Identifiers

PMID: 10573007
DOI: 10.1038/sj.ejhg.5200368

Genes

GALT

Provenance

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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