Article
Phenotype diversity in type 1 Gaucher disease: discovering the genetic basis of Gaucher disease/hematologic malignancy phenotype by individual genome analysis.
Blood - 17 May 2012
Lo Sarah M, Choi Murim, Liu Jun, Jain Dhanpat, Boot Rolf G, Kallemeijn Wouter W, Aerts Johannes M F G, Pashankar Farzana, Kupfer Gary M, Mane Shrikant, Lifton Richard P, Mistry Pramod K
Abstract excerpt
Gaucher disease (GD), an inherited macrophage glycosphingolipidosis, manifests with an extraordinary variety of phenotypes that show imperfect correlation with mutations in the GBA gene. In addition to the classic manifestations, patients suffer from increased susceptibility to hematologic and nonhematologic malignancies. The mechanism(s) underlying malignancy in GD is not known, but is postulated to be secondary...
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