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Mary Dell Railey Yuliya Lokhnygina Rebecca H. Buckley 《The Journal of pediatrics》2009,155(6):834-840
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To study the correlation between genotype and phenotype in x-linked SCID, we have characterized the presentation of 2 unrelated patients. Both had infections suggestive of immunodeficiency, but their immune function and lymphoid tissues were normal. They were found to have an identical R222C mutation in the gammac gene. 相似文献