000 02403 a2200781 4500
005 20250517193525.0
264 0 _c20180305
008 201803s 0 0 eng d
022 _a2041-1723
024 7 _a10.1038/s41467-017-02306-5
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aGuéant, Jean-Louis
245 0 0 _aAPRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients.
_h[electronic resource]
260 _bNature communications
_c01 2018
300 _a67 p.
_bdigital
500 _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aAlleles
650 0 4 _aAzacitidine
_xpharmacology
650 0 4 _aBase Sequence
650 0 4 _aCarrier Proteins
_xgenetics
650 0 4 _aEnzyme Inhibitors
_xpharmacology
650 0 4 _aEpistasis, Genetic
650 0 4 _aFamily Health
650 0 4 _aFemale
650 0 4 _aFibroblasts
_xdrug effects
650 0 4 _aHeterozygote
650 0 4 _aHumans
650 0 4 _aMale
650 0 4 _aMetabolism, Inborn Errors
_xgenetics
650 0 4 _aMutation
650 0 4 _aOxidoreductases
650 0 4 _aPedigree
650 0 4 _aPeroxiredoxins
_xgenetics
650 0 4 _aVitamin B 12
_xmetabolism
650 0 4 _aWhole Genome Sequencing
700 1 _aChéry, Céline
700 1 _aOussalah, Abderrahim
700 1 _aNadaf, Javad
700 1 _aCoelho, David
700 1 _aJosse, Thomas
700 1 _aFlayac, Justine
700 1 _aRobert, Aurélie
700 1 _aKoscinski, Isabelle
700 1 _aGastin, Isabelle
700 1 _aFilhine-Tresarrieu, Pierre
700 1 _aPupavac, Mihaela
700 1 _aBrebner, Alison
700 1 _aWatkins, David
700 1 _aPastinen, Tomi
700 1 _aMontpetit, Alexandre
700 1 _aHariri, Fadi
700 1 _aTregouët, David
700 1 _aRaby, Benjamin A
700 1 _aChung, Wendy K
700 1 _aMorange, Pierre-Emmanuel
700 1 _aFroese, D Sean
700 1 _aBaumgartner, Matthias R
700 1 _aBenoist, Jean-François
700 1 _aFicicioglu, Can
700 1 _aMarchand, Virginie
700 1 _aMotorin, Yuri
700 1 _aBonnemains, Chrystèle
700 1 _aFeillet, François
700 1 _aMajewski, Jacek
700 1 _aRosenblatt, David S
773 0 _tNature communications
_gvol. 9
_gno. 1
_gp. 67
856 4 0 _uhttps://doi.org/10.1038/s41467-017-02306-5
_zAvailable from publisher's website
999 _c27948845
_d27948845