000 02057 a2200601 4500
005 20250513171241.0
264 0 _c20000405
008 200004s 0 0 eng d
022 _a0002-9297
024 7 _a10.1086/302323
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aMaugeri, A
245 0 0 _aThe 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease.
_h[electronic resource]
260 _bAmerican journal of human genetics
_cApr 1999
300 _a1024-35 p.
_bdigital
500 _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aATP-Binding Cassette Transporters
_xchemistry
650 0 4 _aAmino Acid Sequence
650 0 4 _aBase Sequence
650 0 4 _aCells, Cultured
650 0 4 _aCorneal Dystrophies, Hereditary
_xepidemiology
650 0 4 _aDNA Mutational Analysis
650 0 4 _aEurope
_xepidemiology
650 0 4 _aExons
_xgenetics
650 0 4 _aFounder Effect
650 0 4 _aGene Frequency
650 0 4 _aGenetic Predisposition to Disease
_xgenetics
650 0 4 _aGenotype
650 0 4 _aHumans
650 0 4 _aIncidence
650 0 4 _aLinkage Disequilibrium
_xgenetics
650 0 4 _aPhenotype
650 0 4 _aPoint Mutation
_xgenetics
650 0 4 _aPolymorphism, Genetic
_xgenetics
650 0 4 _aRNA, Messenger
_xanalysis
650 0 4 _aRetinitis Pigmentosa
_xepidemiology
700 1 _avan Driel, M A
700 1 _avan de Pol, D J
700 1 _aKlevering, B J
700 1 _avan Haren, F J
700 1 _aTijmes, N
700 1 _aBergen, A A
700 1 _aRohrschneider, K
700 1 _aBlankenagel, A
700 1 _aPinckers, A J
700 1 _aDahl, N
700 1 _aBrunner, H G
700 1 _aDeutman, A F
700 1 _aHoyng, C B
700 1 _aCremers, F P
773 0 _tAmerican journal of human genetics
_gvol. 64
_gno. 4
_gp. 1024-35
856 4 0 _uhttps://doi.org/10.1086/302323
_zAvailable from publisher's website
999 _c10050619
_d10050619