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Article

Molecular analysis of 11 galactosemia patients.

Nucleic acids research - 1 Dec 1991

Reichardt J K

Abstract excerpt

Galactosemia is a human inborn error of galactose metabolism due to deficiency of galactose-1-phosphate uridyl transferase. In this paper, I describe the molecular analysis of genomic DNA, mRNA and protein from 11 different galactosemic patients by Southern, Northern and Western blotting. The results of these experiments lead me to conclude that galactosemia is caused mostly by missense mutations. The unusual...

Topics

Blotting, Northern
Blotting, Southern
Blotting, Western
Cell Line, Transformed
Galactosemias
Humans
Mutation
RNA, Messenger
UTP-Hexose-1-Phosphate Uridylyltransferase

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 1766867
DOI: 10.1093/nar/19.25.7049
PMCID: PMC332510

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1766867-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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