Article
Clinical and molecular analysis of patients with defects in micro heavy chain gene.
The Journal of clinical investigation - 1 Oct 2002
Lopez Granados Eduardo, Porpiglia Andrea S, Hogan Mary Beth, Matamoros Nuria, Krasovec Silvia, Pignata Claudio, Smith C I E, Hammarstrom Lennart, Bjorkander Janne, Belohradsky Bernd H, Casariego G Fontan, Garcia Rodriguez M C, Conley Mary Ellen
Abstract excerpt
Autosomal recessive disorders of B cell development are rare and heterogeneous. To determine the proportion of affected patients who have defects in the micro heavy chain (IGHM) gene, we used single-stranded conformational polymorphism analysis to screen genomic DNA from 40 unrelated patients with early onset infections, profound hypogammaglobulinemia, and absent B cells. All of the patients were genotypically...
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