Mitochondrial DNA insert into CD40 ligand gene‐associated X‐linked hyper‐IgM syndrome

Abstract Background X‐linked hyper‐IgM (X‐HIGM), which results from mutations in the CD40LG gene located on chromosome Xq26.3, is the most common form of HIGM. To date, more than 130 variants of the CD40L gene have been reported. We described a patient with novel de novo nuclear mitochondrial DNA se...

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Bibliografski detalji

Glavni autori:	Xuejing Li, Dan Xu, Beilei Cheng, Yunlian Zhou, Zhimin Chen, Yingshuo Wang
Format:	Artigo
Jezik:	Inglês
Izdano:	Wiley 2021-05-01
Serija:	Molecular Genetics & Genomic Medicine
Teme:	CD40LG insertional mutation nuclear mitochondrial DNA sequences X‐linked hyper‐IgM syndrome
Online pristup:	https://doi.org/10.1002/mgg3.1646
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