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[Mutation analysis and prenatal diagnosis of a Chinese family with X-linked severe combined immunodeficiency].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Nov 2012

Wu Qing-hua, Shi Hui-rong, Liu Ning, Jiang Miao, Lu Ning, Zhao Zhen-hua, Kong Xiang-dong

Abstract excerpt

OBJECTIVE: To analyze the mutation of IL2RG gene in a Chinese family with a birth history of a dead child suspected of X-linked severe combined immunodeficiency (X-SCID), and to perform prenatal diagnosis with DNA sequencing. METHOD: Blood samples of the parents of the dead child and chorionic villi at gestational age 11 weeks were collected. Eight exons comprising the open reading frame as well as their...

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PMID: 23302618

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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