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Article

DNA mutation analysis of Gaucher patients.

American journal of medical genetics - 1 Feb 1992

Sidransky E, Tsuji S, Martin B M, Stubblefield B, Ginns E I

Abstract excerpt

We evaluated 62 Gaucher patients to determine whether patients with similar phenotypes had the same DNA point mutations. Genomic DNA from these Gaucher patients was screened for the 3 most frequent single-point mutations, occurring in 69% of the 124 patient alleles, and resulting in changes in amino acids 370, 444, and 463. Many different genotypes were observed, at least one of which is present in all 3 types of...

Topics

Adolescent
Adult
Amino Acid Sequence
Base Sequence
Child
Child, Preschool
DNA Mutational Analysis
Gaucher Disease
Genotype
Humans
Infant
Middle Aged

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Sequence Data

Phenotype

Source

Identifiers

PMID: 1536173
DOI: 10.1002/ajmg.1320420315

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1536173-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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