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

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 muc...

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Veröffentlicht in:	QJM : An International Journal of Medicine 2004-04, Vol.97 (4), p.199-204
Hauptverfasser:	Lachmann, R.H., Grant, I.R., Halsall, D., Cox, T.M.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Aged Alleles Biological and medical sciences Diseases in Twins - genetics Errors of metabolism Female Gaucher Disease - genetics General aspects Glucosylceramidase - genetics Humans Lipids (lysosomal enzyme disorders, storage diseases) Male Medical sciences Metabolic diseases Middle Aged Phenotype Risk Factors Twins, Dizygotic - genetics Twins, Monozygotic - genetics
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