Gaucher Disease
Study results from University Hospital, Division of Hematology update understanding of Gaucher disease
Published in Blood Weekly, May 27th, 2010
Investigators publish new data in the report 'An unusual presentation of Gaucher's disease: aortic valve fibrosis in a patient homozygous for a rare G377S mutation.' According to recent research published in the journal Collegium Antropologicum, "Gaucher's disease (GD) has variable presentations, but cardiac involvement is a generally uncommon clinical manifestation of the disease. In the past 25 years, the underlying genetic disorder in GD has been well characterized, with almost 300 mutations identified in the glucocerebrosidase gene (GBA)."
"Nevertheless, clear genotype-phenotype correlations have been confirmed only for the most frequent mutations. We present...
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Source: Blood Weekly (2010-05-27)
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