000			02108 a2200673 4500
005			20250517092758.0
264		0	_c20171215
008			201712s 0 0 eng d
022			_a1098-1004
024	7		_a10.1002/humu.23006 _2doi
040			_aNLM _beng _cNLM
100	1		_aKnaus, Alexej
245	0	0	_aRare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome. _h[electronic resource]
260			_bHuman mutation _c08 2016
300			_a737-44 p. _bdigital
500			_aPublication Type: Journal Article
650	0	4	_a3' Untranslated Regions
650	0	4	_aAbnormalities, Multiple _xgenetics
650	0	4	_aAdolescent
650	0	4	_aAdult
650	0	4	_aCarboxylic Ester Hydrolases
650	0	4	_aCells, Cultured
650	0	4	_aChild
650	0	4	_aChild, Preschool
650	0	4	_aFemale
650	0	4	_aGenetic Predisposition to Disease
650	0	4	_aHumans
650	0	4	_aIntellectual Disability _xgenetics
650	0	4	_aIntrons
650	0	4	_aMale
650	0	4	_aMutation, Missense
650	0	4	_aPedigree
650	0	4	_aPhosphorus Metabolism Disorders _xgenetics
650	0	4	_aPolymorphism, Single Nucleotide
650	0	4	_aRNA, Messenger _xgenetics
650	0	4	_aReceptors, Cell Surface _xgenetics
650	0	4	_aSequence Analysis, DNA _xmethods
650	0	4	_aYoung Adult
700	1		_aAwaya, Tomonari
700	1		_aHelbig, Ingo
700	1		_aAfawi, Zaid
700	1		_aPendziwiat, Manuela
700	1		_aAbu-Rachma, Jubran
700	1		_aThompson, Miles D
700	1		_aCole, David E
700	1		_aSkinner, Steve
700	1		_aAnnese, Fran
700	1		_aCanham, Natalie
700	1		_aSchweiger, Michal R
700	1		_aRobinson, Peter N
700	1		_aMundlos, Stefan
700	1		_aKinoshita, Taroh
700	1		_aMunnich, Arnold
700	1		_aMurakami, Yoshiko
700	1		_aHorn, Denise
700	1		_aKrawitz, Peter M
773	0		_tHuman mutation _gvol. 37 _gno. 8 _gp. 737-44
856	4	0	_uhttps://doi.org/10.1002/humu.23006 _zAvailable from publisher's website
999			_c25964279 _d25964279