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