000 | 01548 a2200493 4500 | ||
---|---|---|---|
005 | 20250514180743.0 | ||
264 | 0 | _c20041012 | |
008 | 200410s 0 0 eng d | ||
022 | _a0141-8955 | ||
024 | 7 |
_a10.1023/B:BOLI.0000016601.49372.18 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aJacobs, L J A M | |
245 | 0 | 0 |
_aPearson syndrome and the role of deletion dimers and duplications in the mtDNA. _h[electronic resource] |
260 |
_bJournal of inherited metabolic disease _c2004 |
||
300 |
_a47-55 p. _bdigital |
||
500 | _aPublication Type: Case Reports; Journal Article | ||
650 | 0 | 4 |
_aAnemia _xgenetics |
650 | 0 | 4 |
_aBone Marrow Diseases _xgenetics |
650 | 0 | 4 | _aChild |
650 | 0 | 4 | _aChild, Preschool |
650 | 0 | 4 |
_aDNA, Mitochondrial _xgenetics |
650 | 0 | 4 | _aDimerization |
650 | 0 | 4 | _aFatal Outcome |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 | _aFibrosis |
650 | 0 | 4 | _aGene Deletion |
650 | 0 | 4 | _aGene Duplication |
650 | 0 | 4 | _aGene Rearrangement |
650 | 0 | 4 | _aGenotype |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 |
_aPancreatic Diseases _xgenetics |
650 | 0 | 4 | _aPhenotype |
650 | 0 | 4 | _aSyndrome |
700 | 1 | _aJongbloed, R J E | |
700 | 1 | _aWijburg, F A | |
700 | 1 | _ade Klerk, J B C | |
700 | 1 | _aGeraedts, J P M | |
700 | 1 | _aNijland, J G | |
700 | 1 | _aScholte, H R | |
700 | 1 | _ade Coo, I F M | |
700 | 1 | _aSmeets, H J M | |
773 | 0 |
_tJournal of inherited metabolic disease _gvol. 27 _gno. 1 _gp. 47-55 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1023/B:BOLI.0000016601.49372.18 _zAvailable from publisher's website |
999 |
_c14692883 _d14692883 |