000 | 02880 a2200961 4500 | ||
---|---|---|---|
005 | 20250517181521.0 | ||
264 | 0 | _c20180720 | |
008 | 201807s 0 0 eng d | ||
022 | _a1460-2083 | ||
024 | 7 |
_a10.1093/hmg/ddx377 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aPeng, Yanyan | |
245 | 0 | 0 |
_aBiallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy. _h[electronic resource] |
260 |
_bHuman molecular genetics _c12 2017 |
||
300 |
_a4937-4950 p. _bdigital |
||
500 | _aPublication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't | ||
650 | 0 | 4 | _aAdolescent |
650 | 0 | 4 | _aAlleles |
650 | 0 | 4 | _aAnimals |
650 | 0 | 4 | _aChild |
650 | 0 | 4 | _aChild, Preschool |
650 | 0 | 4 | _aElectron Transport |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 |
_aFerredoxins _xgenetics |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aInfant |
650 | 0 | 4 |
_aIron _xmetabolism |
650 | 0 | 4 |
_aIron-Sulfur Proteins _xgenetics |
650 | 0 | 4 | _aMale |
650 | 0 | 4 | _aMice |
650 | 0 | 4 |
_aMitochondria _xgenetics |
650 | 0 | 4 |
_aMitochondrial Membranes _xmetabolism |
650 | 0 | 4 | _aMutagenesis |
650 | 0 | 4 | _aMutation |
650 | 0 | 4 |
_aOptic Atrophy _xgenetics |
650 | 0 | 4 |
_aOxidoreductases _xgenetics |
650 | 0 | 4 | _aPedigree |
650 | 0 | 4 |
_aSulfite Reductase (Ferredoxin) _xgenetics |
650 | 0 | 4 |
_aExome Sequencing _xmethods |
700 | 1 | _aShinde, Deepali N | |
700 | 1 | _aValencia, C Alexander | |
700 | 1 | _aMo, Jun-Song | |
700 | 1 | _aRosenfeld, Jill | |
700 | 1 | _aTruitt Cho, Megan | |
700 | 1 | _aChamberlin, Adam | |
700 | 1 | _aLi, Zhuo | |
700 | 1 | _aLiu, Jie | |
700 | 1 | _aGui, Baoheng | |
700 | 1 | _aBrockhage, Rachel | |
700 | 1 | _aBasinger, Alice | |
700 | 1 | _aAlvarez-Leon, Brenda | |
700 | 1 | _aHeydemann, Peter | |
700 | 1 | _aMagoulas, Pilar L | |
700 | 1 | _aLewis, Andrea M | |
700 | 1 | _aScaglia, Fernando | |
700 | 1 | _aGril, Solange | |
700 | 1 | _aChong, Shuk Ching | |
700 | 1 | _aBower, Matthew | |
700 | 1 | _aMonaghan, Kristin G | |
700 | 1 | _aWillaert, Rebecca | |
700 | 1 | _aPlona, Maria-Renee | |
700 | 1 | _aDineen, Rich | |
700 | 1 | _aMilan, Francisca | |
700 | 1 | _aHoganson, George | |
700 | 1 | _aPowis, Zoe | |
700 | 1 | _aHelbig, Katherine L | |
700 | 1 | _aKeller-Ramey, Jennifer | |
700 | 1 | _aHarris, Belinda | |
700 | 1 | _aAnderson, Laura C | |
700 | 1 | _aGreen, Torrian | |
700 | 1 | _aSukoff Rizzo, Stacey J | |
700 | 1 | _aKaylor, Julie | |
700 | 1 | _aChen, Jiani | |
700 | 1 | _aGuan, Min-Xin | |
700 | 1 | _aSellars, Elizabeth | |
700 | 1 | _aSparagana, Steven P | |
700 | 1 | _aGibson, James B | |
700 | 1 | _aReinholdt, Laura G | |
700 | 1 | _aTang, Sha | |
700 | 1 | _aHuang, Taosheng | |
773 | 0 |
_tHuman molecular genetics _gvol. 26 _gno. 24 _gp. 4937-4950 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1093/hmg/ddx377 _zAvailable from publisher's website |
999 |
_c27693167 _d27693167 |