Article

Clinical and molecular analysis of patients with defects in μ heavy chain gene

2002-10-01

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 heavy chain (IGHM) gene, we used singlestranded 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 normal in...

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Literature Corpus work: 889ae7ad-91c3-5cd3-8fe4-9f1a9c7344c1
DOI: 10.1172/jci0215658

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