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Article

Twin pairs showing discordance of phenotype in adult Gaucher's disease.

QJM : monthly journal of the Association of Physicians - 1 Apr 2004

Lachmann R H, Grant I R, Halsall D, Cox T M

Abstract excerpt

BACKGROUND: Non-neuronopathic (type 1) Gaucher's disease, a recessive disorder caused by glucocerebrosidase deficiency, shows marked variability in the severity and extent of clinical expression: many individuals who harbour two mutant alleles remain mildly affected or asymptomatic. Despite much...

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PMID: 15028849
DOI: 10.1093/qjmed/hch036

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15028849-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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