000			02301 a2200697 4500
005			20250513223346.0
264		0	_c20001213
008			200012s 0 0 eng d
022			_a1061-4036
024	7		_a10.1038/81555 _2doi
040			_aNLM _beng _cNLM
100	1		_aGal, A
245	0	0	_aMutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa. _h[electronic resource]
260			_bNature genetics _cNov 2000
300			_a270-1 p. _bdigital
500			_aPublication Type: Case Reports; Comparative Study; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
650	0	4	_aAdult
650	0	4	_aAmino Acid Substitution
650	0	4	_aAnimals
650	0	4	_aChromosomes, Human, Pair 2 _xgenetics
650	0	4	_aCloning, Molecular
650	0	4	_aCodon _xgenetics
650	0	4	_aConsanguinity
650	0	4	_aDNA Mutational Analysis
650	0	4	_aDisease Models, Animal
650	0	4	_aExons _xgenetics
650	0	4	_aEye Proteins _xgenetics
650	0	4	_aFemale
650	0	4	_aFrameshift Mutation
650	0	4	_aGenes, Recessive
650	0	4	_aHumans
650	0	4	_aIntrons _xgenetics
650	0	4	_aMale
650	0	4	_aMiddle Aged
650	0	4	_aMutation, Missense
650	0	4	_aPhagocytosis
650	0	4	_aPoint Mutation
650	0	4	_aPolymorphism, Single-Stranded Conformational
650	0	4	_aProto-Oncogene Proteins
650	0	4	_aRNA Splice Sites _xgenetics
650	0	4	_aRats
650	0	4	_aRats, Inbred Strains _xgenetics
650	0	4	_aReceptor Protein-Tyrosine Kinases _xdeficiency
650	0	4	_aRetinal Degeneration _xenzymology
650	0	4	_aRetinitis Pigmentosa _xenzymology
650	0	4	_aRod Cell Outer Segment _xpathology
650	0	4	_aRodent Diseases _xenzymology
650	0	4	_aSequence Deletion
650	0	4	_aSpecies Specificity
650	0	4	_aTerminator Regions, Genetic _xgenetics
650	0	4	_ac-Mer Tyrosine Kinase
700	1		_aLi, Y
700	1		_aThompson, D A
700	1		_aWeir, J
700	1		_aOrth, U
700	1		_aJacobson, S G
700	1		_aApfelstedt-Sylla, E
700	1		_aVollrath, D
773	0		_tNature genetics _gvol. 26 _gno. 3 _gp. 270-1
856	4	0	_uhttps://doi.org/10.1038/81555 _zAvailable from publisher's website
999			_c11004984 _d11004984