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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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Mol Genet Genomic Med
Egile Nagusiak: Li, Xuejing, Xu, Dan, Cheng, Beilei, Zhou, Yunlian, Chen, Zhimin, Wang, Yingshuo
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: John Wiley and Sons Inc. 2021
Gaiak:
Sarrera elektronikoa: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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