| 000 | 01840 a2200541 4500 | ||
|---|---|---|---|
| 005 | 20250516115443.0 | ||
| 264 | 0 | _c20130114 | |
| 008 | 201301s 0 0 eng d | ||
| 022 | _a1537-6605 | ||
| 024 | 7 |
_a10.1016/j.ajhg.2012.09.001 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aVedrenne, Vanessa | |
| 245 | 0 | 0 |
_aMutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency. _h[electronic resource] |
| 260 |
_bAmerican journal of human genetics _cNov 2012 |
||
| 300 |
_a912-8 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 |
_aBrain _xpathology |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aDNA, Mitochondrial _xgenetics |
| 650 | 0 | 4 | _aExons |
| 650 | 0 | 4 |
_aExoribonucleases _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHep G2 Cells |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMagnetic Resonance Imaging |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMitochondrial Diseases _xdiagnosis |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aRNA Interference |
| 650 | 0 | 4 |
_aRNA Transport _xgenetics |
| 650 | 0 | 4 |
_aRNA, Ribosomal _xmetabolism |
| 650 | 0 | 4 |
_aRNA, Transfer _xmetabolism |
| 700 | 1 | _aGowher, Ali | |
| 700 | 1 | _aDe Lonlay, Pascale | |
| 700 | 1 | _aNitschke, Patrick | |
| 700 | 1 | _aSerre, Valérie | |
| 700 | 1 | _aBoddaert, Nathalie | |
| 700 | 1 | _aAltuzarra, Cecilia | |
| 700 | 1 | _aMager-Heckel, Anne-Marie | |
| 700 | 1 | _aChretien, Florence | |
| 700 | 1 | _aEntelis, Nina | |
| 700 | 1 | _aMunnich, Arnold | |
| 700 | 1 | _aTarassov, Ivan | |
| 700 | 1 | _aRötig, Agnès | |
| 773 | 0 |
_tAmerican journal of human genetics _gvol. 91 _gno. 5 _gp. 912-8 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ajhg.2012.09.001 _zAvailable from publisher's website |
| 999 |
_c22199608 _d22199608 |
||