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Article

Mutation analysis in 46 British and Irish patients with Gaucher's disease.

Archives of disease in childhood - 1 Jul 1997

Hatton C E, Cooper A, Whitehouse C, Wraith J E

Abstract excerpt

DNA from 46 unrelated patients with Gaucher's disease was analysed for 10 known mutations: 84GG(c84 G 85ins), N370S (c1226G), L444P (c1448C), R463C (c1504T), R496H (c1604A), IVS2+1, D409H (c1342C), RecNcil (c1448C-1498C), RecTL (c1342C-1498C), and c1263del (c1264-1318del). Fifty four mutations (9...

Topics

Adult
Age of Onset
Base Sequence
Child
DNA Mutational Analysis
Electrophoresis
Gaucher Disease
Gene Deletion
Genotype
Glucosylceramidase
Humans
Ireland
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Phenotype

Point Mutation

Sequence Alignment

United Kingdom

Source

Open in PubMed Open full text

Identifiers

PMID: 9279145
DOI: 10.1136/adc.77.1.17
PMCID: PMC1717235

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9279145-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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