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 |