A 25-year-old with severe coronary artery disease

The heterogeneity and variable severity of clinical features in Gaucher's disease are puzzling, considering that all patients have dysfunctional mutations inbetaglucocerebrosidase. Recently, genotype/phenotype correlations have begun to emerge: Type 1 (non-neuronopathic) Gaucher's is frequ...

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Veröffentlicht in:	The Lancet (British edition) 2001-01, Vol.357 (9250), p.116-116
Hauptverfasser:	Ward, Michael R, Herity, Niall A, Lee, David P, Yeung, Alan C
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Biological and medical sciences Cardiology. Vascular system Cardiovascular disease Coronary Disease - diagnosis Coronary heart disease Female Heart Heterogeneity Homozygosity Humans Medical sciences Mutation Severity of Illness Index Young adults
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