Article
Mutations in the mu heavy-chain gene in patients with agammaglobulinemia.
The New England journal of medicine - 14 Nov 1996
Yel L, Minegishi Y, Coustan-Smith E, Buckley R H, Trübel H, Pachman L M, Kitchingman G R, Campana D, Rohrer J, Conley M E
Abstract excerpt
BACKGROUND: Most patients with congenital hypogammaglobulinemia and absent B cells are males with X-linked agammaglobulinemia, which is caused by mutations in the gene for Bruton's tyrosine kinase (Btk); however, there are females with a similar disorder who do not have mutations in this gene. We studied two families with autosomal recessive defects in B-cell development and patients with presumed X-linked...
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