Guéant, Jean-Louis <br/><br/>
APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients.  [electronic resource] 

 -  Nature communications  01 2018 
 - 67 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>2041-1723 
<br/><br/><label>Standard No.: </label>10.1038/s41467-017-02306-5  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Alleles<br/>Azacitidine--pharmacology<br/>Base Sequence<br/>Carrier Proteins--genetics<br/>Enzyme Inhibitors--pharmacology<br/>Epistasis, Genetic<br/>Family Health<br/>Female<br/>Fibroblasts--drug effects<br/>Heterozygote<br/>Humans<br/>Male<br/>Metabolism, Inborn Errors--genetics<br/>Mutation<br/>Oxidoreductases<br/>Pedigree<br/>Peroxiredoxins--genetics<br/>Vitamin B 12--metabolism<br/>Whole Genome Sequencing