Novel compound heterozygous DNA ligase IV mutations in an adolescent with a slowly-progressing radiosensitive-severe combined immunodeficiency

出版年份 2015 全文链接

标题

作者

关键词

DNA ligase IV, Hematopoietic stem cell transplantation, LIG4 syndrome, Severe combined immunodeficiency, TREC/KREC, Whole exome sequencing

出版物

Volume 160, Issue 2, Pages 255-260

出版商

Elsevier BV

发表日期

2015-07-11

DOI

10.1016/j.clim.2015.07.004

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