Phenotype diversity in type 1 Gaucher disease: discovering the genetic basis of Gaucher disease/hematologic malignancy phenotype by individual genome analysis

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 nonhe...

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Dades bibliogràfiques
Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: American Society of Hematology 2012
Matèries:
Phagocytes, Granulocytes, and Myelopoiesis
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3367875/
https://ncbi.nlm.nih.gov/pubmed/22493294
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2011-10-386862
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