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 |