000			02139 a2200661 4500
005			20250515114345.0
264		0	_c20080513
008			200805s 0 0 eng d
022			_a1537-6605
024	7		_a10.1016/j.ajhg.2008.01.021 _2doi
040			_aNLM _beng _cNLM
100	1		_aNoor, Abdul
245	0	0	_aCC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa. _h[electronic resource]
260			_bAmerican journal of human genetics _cApr 2008
300			_a1011-8 p. _bdigital
500			_aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aAdolescent
650	0	4	_aAdult
650	0	4	_aAmino Acid Sequence
650	0	4	_aAnimals
650	0	4	_aCalcium _xmetabolism
650	0	4	_aChild, Preschool
650	0	4	_aChromosome Mapping
650	0	4	_aChromosomes, Human, Pair 4 _xgenetics
650	0	4	_aConsanguinity
650	0	4	_aCytoskeletal Proteins
650	0	4	_aExons _xgenetics
650	0	4	_aFemale
650	0	4	_aFrameshift Mutation
650	0	4	_aHaplotypes
650	0	4	_aHomozygote
650	0	4	_aHumans
650	0	4	_aIntellectual Disability _xgenetics
650	0	4	_aLod Score
650	0	4	_aMale
650	0	4	_aMolecular Sequence Data
650	0	4	_aOligonucleotide Array Sequence Analysis
650	0	4	_aPakistan
650	0	4	_aPedigree
650	0	4	_aProtein Structure, Tertiary _xgenetics
650	0	4	_aProteins _xgenetics
650	0	4	_aRNA Splicing _xgenetics
650	0	4	_aRetinitis Pigmentosa _xgenetics
700	1		_aWindpassinger, Christian
700	1		_aPatel, Megha
700	1		_aStachowiak, Beata
700	1		_aMikhailov, Anna
700	1		_aAzam, Matloob
700	1		_aIrfan, Muhammad
700	1		_aSiddiqui, Zahid Kamal
700	1		_aNaeem, Farooq
700	1		_aPaterson, Andrew D
700	1		_aLutfullah, Muhammad
700	1		_aVincent, John B
700	1		_aAyub, Muhammad
773	0		_tAmerican journal of human genetics _gvol. 82 _gno. 4 _gp. 1011-8
856	4	0	_uhttps://doi.org/10.1016/j.ajhg.2008.01.021 _zAvailable from publisher's website
999			_c17886842 _d17886842