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A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients
- Source :
- Nature Communications, Vol 9, Iss 1, Pp 1-12 (2018)
- Publication Year :
- 2018
- Publisher :
- Nature Portfolio, 2018.
-
Abstract
- Inborn errors of vitamin B12 metabolism of the cblC class are caused by mutations in the MMACHC gene. Here, Guéant et al. report epi-cblC, a class of cblC in which patients are compound heterozygous for a genetic mutation and a secondary epimutation at the MMACHC locus.
- Subjects :
- Science
Subjects
Details
- Language :
- English
- ISSN :
- 20411723
- Volume :
- 9
- Issue :
- 1
- Database :
- Directory of Open Access Journals
- Journal :
- Nature Communications
- Publication Type :
- Academic Journal
- Accession number :
- edsdoj.bd6be2fd8e245cb84a21aa02a029651
- Document Type :
- article
- Full Text :
- https://doi.org/10.1038/s41467-017-02306-5