GM2-gangliosidosis B1 variant: analysis of beta-hexosaminidase alpha gene abnormalities in seven patients.

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Article

GM2-gangliosidosis B1 variant: analysis of beta-hexosaminidase alpha gene abnormalities in seven patients.

American journal of human genetics - 1 Feb 1990

Tanaka A, Ohno K, Sandhoff K, Maire I, Kolodny E H, Brown A, Suzuki K

Abstract excerpt

A single nucleotide transition within exon 5 of the beta-hexosaminidase alpha chain gene was identified in a Puerto Rican patient with GM2-gangliosidosis B1 variant as the mutation responsible for the unusual enzymological characteristics of this variant (G533----A; Arg178----His) (the DN-allele)...

Topics

Alleles
Amino Acid Sequence
Base Sequence
Cells, Cultured
Child, Preschool
Exons
Female
Fibroblasts
Genes
Genetic Variation
Humans
Infant
Introns
Macromolecular Substances
Male
Molecular Sequence Data
Mutation
Polymerase Chain Reaction

Source

Open in PubMed Open full text

Identifiers

PMID: 2137287
PMCID: PMC1684994

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-2137287-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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