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Article

Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes.

American journal of human genetics - 1 Mar 1995

Elsas L J, Langley S, Steele E, Evinger J, Fridovich-Keil J L, Brown A, Singh R, Fernhoff P, Hjelm L N, Dembure P P

Abstract excerpt

We describe a stratagem for identifying new mutations in the galactose-1-phosphate uridyl transferase (GALT) gene. GALT enzyme activity and isoforms were defined in erythrocytes from probands and their first-degree relatives. If the biochemical phenotypes segregated in an autosomal recessive pattern, we screened for common mutations by using multiplex PCR and restriction endonuclease digestions. If common mutant...

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Identifiers

PMID: 7887416
PMCID: PMC1801164

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GALT

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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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Galactosemia: Biochemistry, Molecular Genetics, Newborn Screening, and TreatmentSemantic proximity Read ↗

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