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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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: 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.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: American Society of Hematology 2012
Pynciau:
Phagocytes, Granulocytes, and Myelopoiesis
Mynediad Ar-lein: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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