000			01915 a2200625 4500
005			20250517100505.0
264		0	_c20170613
008			201706s 0 0 eng d
022			_a1399-0004
024	7		_a10.1111/cge.12815 _2doi
040			_aNLM _beng _cNLM
100	1		_aMartín, M Á
245	0	0	_aThe homozygous R504C mutation in MTO1 gene is responsible for ONCE syndrome. _h[electronic resource]
260			_bClinical genetics _c01 2017
300			_a46-53 p. _bdigital
500			_aPublication Type: Case Reports; Journal Article
650	0	4	_aAbnormalities, Multiple _xgenetics
650	0	4	_aAcidosis, Lactic
650	0	4	_aAdolescent
650	0	4	_aAmino Acid Sequence
650	0	4	_aBrain Diseases
650	0	4	_aCardiomyopathies
650	0	4	_aCarrier Proteins _xgenetics
650	0	4	_aExome _xgenetics
650	0	4	_aFamily Health
650	0	4	_aFemale
650	0	4	_aGenetic Predisposition to Disease _xgenetics
650	0	4	_aHomozygote
650	0	4	_aHumans
650	0	4	_aMale
650	0	4	_aMitochondrial Diseases
650	0	4	_aMutation, Missense
650	0	4	_aOptic Nerve Diseases
650	0	4	_aPedigree
650	0	4	_aPolymorphism, Single Nucleotide
650	0	4	_aRNA-Binding Proteins
650	0	4	_aSequence Analysis, DNA
650	0	4	_aSequence Homology, Amino Acid
650	0	4	_aSyndrome
650	0	4	_aYoung Adult
700	1		_aGarcía-Silva, M T
700	1		_aBarcia, G
700	1		_aDelmiro, A
700	1		_aRodríguez-García, M E
700	1		_aBlázquez, A
700	1		_aFrancisco-Álvarez, R
700	1		_aMartín-Hernández, E
700	1		_aQuijada-Fraile, P
700	1		_aTejada-Palacios, P
700	1		_aArenas, J
700	1		_aSantos, C
700	1		_aMartínez-Azorín, F
773	0		_tClinical genetics _gvol. 91 _gno. 1 _gp. 46-53
856	4	0	_uhttps://doi.org/10.1111/cge.12815 _zAvailable from publisher's website
999			_c26086345 _d26086345