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

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 sequences...

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Detaylı Bibliyografya
Yayımlandı:Mol Genet Genomic Med
Asıl Yazarlar: Li, Xuejing, Xu, Dan, Cheng, Beilei, Zhou, Yunlian, Chen, Zhimin, Wang, Yingshuo
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: John Wiley and Sons Inc. 2021
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC8172197/
https://ncbi.nlm.nih.gov/pubmed/33764006
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1646
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