| Literature DB >> 8380905 |
D Vetrie1, I Vorechovský, P Sideras, J Holland, A Davies, F Flinter, L Hammarström, C Kinnon, R Levinsky, M Bobrow.
Abstract
X-linked agammaglobulinaemia (XLA) is a human immunodeficiency caused by failure of pre-B cells in the bone marrow to develop into circulating mature B cells. A novel gene has been isolated which maps to the XLA locus, is expressed in B cells, and shows mutations in families with the disorder. The gene is a member of the src family of proto-oncogenes which encode protein-tyrosine kinases. This is, to our knowledge, the first evidence that mutations in a src-related gene are involved in human genetic disease.Entities:
Mesh:
Substances:
Year: 1993 PMID: 8380905 DOI: 10.1038/361226a0
Source DB: PubMed Journal: Nature ISSN: 0028-0836 Impact factor: 49.962