| 000 | 02821 a2200913 4500 | ||
|---|---|---|---|
| 005 | 20250518062104.0 | ||
| 264 | 0 | _c20200724 | |
| 008 | 202007s 0 0 eng d | ||
| 022 | _a1558-8238 | ||
| 024 | 7 |
_a10.1172/JCI128514 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aDel Dotto, Valentina | |
| 245 | 0 | 0 |
_aSSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder. _h[electronic resource] |
| 260 |
_bThe Journal of clinical investigation _c01 2020 |
||
| 300 |
_a108-125 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAnimals |
| 650 | 0 | 4 |
_aDNA Polymerase gamma _xphysiology |
| 650 | 0 | 4 | _aDNA Replication |
| 650 | 0 | 4 |
_aDNA, Mitochondrial _xgenetics |
| 650 | 0 | 4 |
_aDNA-Binding Proteins _xchemistry |
| 650 | 0 | 4 | _aExome |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMitochondria _xmetabolism |
| 650 | 0 | 4 |
_aMitochondrial Proteins _xchemistry |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aOptic Atrophies, Hereditary _xetiology |
| 650 | 0 | 4 | _aZebrafish |
| 700 | 1 | _aUllah, Farid | |
| 700 | 1 | _aDi Meo, Ivano | |
| 700 | 1 | _aMagini, Pamela | |
| 700 | 1 | _aGusic, Mirjana | |
| 700 | 1 | _aMaresca, Alessandra | |
| 700 | 1 | _aCaporali, Leonardo | |
| 700 | 1 | _aPalombo, Flavia | |
| 700 | 1 | _aTagliavini, Francesca | |
| 700 | 1 | _aBaugh, Evan Harris | |
| 700 | 1 | _aMacao, Bertil | |
| 700 | 1 | _aSzilagyi, Zsolt | |
| 700 | 1 | _aPeron, Camille | |
| 700 | 1 | _aGustafson, Margaret A | |
| 700 | 1 | _aKhan, Kamal | |
| 700 | 1 | _aLa Morgia, Chiara | |
| 700 | 1 | _aBarboni, Piero | |
| 700 | 1 | _aCarbonelli, Michele | |
| 700 | 1 | _aValentino, Maria Lucia | |
| 700 | 1 | _aLiguori, Rocco | |
| 700 | 1 | _aShashi, Vandana | |
| 700 | 1 | _aSullivan, Jennifer | |
| 700 | 1 | _aNagaraj, Shashi | |
| 700 | 1 | _aEl-Dairi, Mays | |
| 700 | 1 | _aIannaccone, Alessandro | |
| 700 | 1 | _aCutcutache, Ioana | |
| 700 | 1 | _aBertini, Enrico | |
| 700 | 1 | _aCarrozzo, Rosalba | |
| 700 | 1 | _aEmma, Francesco | |
| 700 | 1 | _aDiomedi-Camassei, Francesca | |
| 700 | 1 | _aZanna, Claudia | |
| 700 | 1 | _aArmstrong, Martin | |
| 700 | 1 | _aPage, Matthew | |
| 700 | 1 | _aStong, Nicholas | |
| 700 | 1 | _aBoesch, Sylvia | |
| 700 | 1 | _aKopajtich, Robert | |
| 700 | 1 | _aWortmann, Saskia | |
| 700 | 1 | _aSperl, Wolfgang | |
| 700 | 1 | _aDavis, Erica E | |
| 700 | 1 | _aCopeland, William C | |
| 700 | 1 | _aSeri, Marco | |
| 700 | 1 | _aFalkenberg, Maria | |
| 700 | 1 | _aProkisch, Holger | |
| 700 | 1 | _aKatsanis, Nicholas | |
| 700 | 1 | _aTiranti, Valeria | |
| 700 | 1 | _aPippucci, Tommaso | |
| 700 | 1 | _aCarelli, Valerio | |
| 773 | 0 |
_tThe Journal of clinical investigation _gvol. 130 _gno. 1 _gp. 108-125 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1172/JCI128514 _zAvailable from publisher's website |
| 999 |
_c30140595 _d30140595 |
||