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 effort, it is not possible accurately to predict disease severity from the genotype, or to identify those patients...
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