Positive JAK2-V617F leading to diagnosis of Gaucher's disease

Journal of Clinical Pathology

Volumn 65, Issue 8, 2012, Pages 764-765

  Appiah Cubi, Stella ^a   Wilkins, Bridget S ^b   Harrison, Claire ^a  

^a GUY S HOSPITAL   (United Kingdom)

^b GUY'S AND ST THOMAS' NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CHITOTRIOSIDASE; JANUS KINASE 2;

ADULT; ALLELE; BONE MARROW BIOPSY; CASE REPORT; CLINICAL EXAMINATION; COMPUTER ASSISTED TOMOGRAPHY; ENZYME BLOOD LEVEL; FEMALE; GAUCHER DISEASE; GENE MUTATION; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; LETTER; MACROPHAGE; MENORRHAGIA; MYELOID METAPLASIA; MYELOPROLIFERATIVE NEOPLASM; PAIN; PANCYTOPENIA; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SPLENOMEGALY; UTERUS MYOMA;

ADULT; BONE MARROW EXAMINATION; DNA MUTATIONAL ANALYSIS; FEMALE; GAUCHER DISEASE; HUMANS; JANUS KINASE 2; MUTATION; PREDICTIVE VALUE OF TESTS;

EID: 84864539505     PISSN: 00219746     EISSN: 14724146     Source Type: Journal    
DOI: 10.1136/jclinpath-2012-200705     Document Type: Letter

References (1)

1. Beutler E. Gaucher's disease: multiple lessons from a single gene disorder. Acta Paediatric Suppl 2006;95:103-9. (Pubitemid 43739104)