Reduced immunoglobulin gene diversity in patients with Cornelia de Lange syndrome.

Journal of Allergy and Clinical Immunology（2018）

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摘要

Altered IGH repertoires with reduced diversity, skewed VH gene usage and reduced frequency of somatic hypermutation were observed in CdLS patients.

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关键词

B-cells,CdLS,NIPBL,SMC1A,V(D)J recombination,cohesin,human,immunoglobulin,somatic hypermutation

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