000 01743 a2200553 4500
005 20250516050225.0
264 0 _c20120531
008 201205s 0 0 eng d
022 _a1098-1004
024 7 _a10.1002/humu.21562
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aGalmiche, Louise
245 0 0 _aExome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy.
_h[electronic resource]
260 _bHuman mutation
_cNov 2011
300 _a1225-31 p.
_bdigital
500 _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aBase Sequence
650 0 4 _aCardiomyopathy, Hypertrophic
_xgenetics
650 0 4 _aDNA Mutational Analysis
650 0 4 _aDNA, Mitochondrial
_xchemistry
650 0 4 _aExome
650 0 4 _aFemale
650 0 4 _aHumans
650 0 4 _aInfant
650 0 4 _aInfant, Newborn
650 0 4 _aMale
650 0 4 _aMitochondria
_xmetabolism
650 0 4 _aMitochondrial Diseases
_xgenetics
650 0 4 _aMitochondrial Proteins
_xgenetics
650 0 4 _aMolecular Sequence Data
650 0 4 _aMutation
650 0 4 _aRibosomal Proteins
_xgenetics
650 0 4 _aSequence Deletion
700 1 _aSerre, Valérie
700 1 _aBeinat, Marine
700 1 _aAssouline, Zahra
700 1 _aLebre, Anne-Sophie
700 1 _aChretien, Dominique
700 1 _aNietschke, Patrick
700 1 _aBenes, Vladimir
700 1 _aBoddaert, Nathalie
700 1 _aSidi, Daniel
700 1 _aBrunelle, Francis
700 1 _aRio, Marlène
700 1 _aMunnich, Arnold
700 1 _aRötig, Agnès
773 0 _tHuman mutation
_gvol. 32
_gno. 11
_gp. 1225-31
856 4 0 _uhttps://doi.org/10.1002/humu.21562
_zAvailable from publisher's website
999 _c21033066
_d21033066