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...

Description complète

Enregistré dans:
Détails bibliographiques
Auteurs principaux: 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
Langue:Inglês
Publié: American Society of Hematology 2012
Sujets:
Phagocytes, Granulocytes, and Myelopoiesis
Accès en ligne: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
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!

Documents similaires