000			02173 a2200685 4500
005			20250513045254.0
264		0	_c19950309
008			199503s 0 0 eng d
022			_a1061-4036
024	7		_a10.1038/ng1094-195 _2doi
040			_aNLM _beng _cNLM
100	1		_aKaler, S G
245	0	0	_aOccipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus. _h[electronic resource]
260			_bNature genetics _cOct 1994
300			_a195-202 p. _bdigital
500			_aPublication Type: Case Reports; Comparative Study; Journal Article
650	0	4	_aAdenosine Triphosphatases _xchemistry
650	0	4	_aAdolescent
650	0	4	_aAnimals
650	0	4	_aBase Sequence
650	0	4	_aCarrier Proteins _xgenetics
650	0	4	_aCation Transport Proteins
650	0	4	_aCells, Cultured
650	0	4	_aCeruloplasmin _xanalysis
650	0	4	_aCopper _xblood
650	0	4	_aCopper-Transporting ATPases
650	0	4	_aDNA Mutational Analysis
650	0	4	_aDihydroxyphenylalanine _xblood
650	0	4	_aEhlers-Danlos Syndrome _xblood
650	0	4	_aExons
650	0	4	_aFemale
650	0	4	_aFibroblasts _xmetabolism
650	0	4	_aHumans
650	0	4	_aMale
650	0	4	_aMenkes Kinky Hair Syndrome _xblood
650	0	4	_aMethoxyhydroxyphenylglycol _xanalogs & derivatives
650	0	4	_aMice
650	0	4	_aMice, Neurologic Mutants
650	0	4	_aMolecular Sequence Data
650	0	4	_aOccipital Bone _xabnormalities
650	0	4	_aPedigree
650	0	4	_aPhenotype
650	0	4	_aPoint Mutation
650	0	4	_aPolymerase Chain Reaction
650	0	4	_aRNA Splicing
650	0	4	_aRecombinant Fusion Proteins
650	0	4	_aSequence Homology, Amino Acid
650	0	4	_aSpecies Specificity
650	0	4	_aTerminator Regions, Genetic
700	1		_aGallo, L K
700	1		_aProud, V K
700	1		_aPercy, A K
700	1		_aMark, Y
700	1		_aSegal, N A
700	1		_aGoldstein, D S
700	1		_aHolmes, C S
700	1		_aGahl, W A
773	0		_tNature genetics _gvol. 8 _gno. 2 _gp. 195-202
856	4	0	_uhttps://doi.org/10.1038/ng1094-195 _zAvailable from publisher's website
999			_c7841360 _d7841360