APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients.

Guéant, Jean-Louis

APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients. [electronic resource] - Nature communications 01 2018 - 67 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

2041-1723

10.1038/s41467-017-02306-5 doi


Alleles
Azacitidine--pharmacology
Base Sequence
Carrier Proteins--genetics
Enzyme Inhibitors--pharmacology
Epistasis, Genetic
Family Health
Female
Fibroblasts--drug effects
Heterozygote
Humans
Male
Metabolism, Inborn Errors--genetics
Mutation
Oxidoreductases
Pedigree
Peroxiredoxins--genetics
Vitamin B 12--metabolism
Whole Genome Sequencing