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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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Autori principali: Xuejing Li, Dan Xu, Beilei Cheng, Yunlian Zhou, Zhimin Chen, Yingshuo Wang
Natura: Artigo
Lingua:Inglês
Pubblicazione: Wiley 2021-05-01
Serie:Molecular Genetics & Genomic Medicine
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Accesso online:https://doi.org/10.1002/mgg3.1646
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