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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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| Publicat a: | Mol Genet Genomic Med |
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| Autors principals: | , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
John Wiley and Sons Inc.
2021
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| Matèries: | |
| Accés en línia: | 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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