Somatic and germline FOXP3 mosaicism in the mother of a boy with IPEX syndrome

Yunting Lin,Aijing Xu,Chunhua Zeng,Jing Cheng,Na Li, Huilin Niu,Li Liu,Xiuzhen Li

EUROPEAN JOURNAL OF IMMUNOLOGY（2018）

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摘要

Confirmatory Sanger sequencing of whole exome sequencing first identified a somatic and germline FOXP3 mosaicism with two different mutational events of c.210 + 1G > T and c.210 + 1G > A in the mother of a boy with IPEX syndrome.

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关键词

FOXP3,IPEX syndrome,Mosaicism,Sanger sequencing,Whole exome sequencing

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