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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 (90%) were identified in 30 patients with type I disease. These included a previously undescribed recombinant mutation...

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Identifiers

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

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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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