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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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Principais autores: Xuejing Li, Dan Xu, Beilei Cheng, Yunlian Zhou, Zhimin Chen, Yingshuo Wang
פורמט: Artigo
שפה:Inglês
יצא לאור: Wiley 2021-05-01
סדרה:Molecular Genetics & Genomic Medicine
נושאים:
CD40LG
insertional mutation
nuclear mitochondrial DNA sequences
X‐linked hyper‐IgM syndrome
גישה מקוונת:https://doi.org/10.1002/mgg3.1646
תגים: הוספת תג
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