000 | 01230 a2200337 4500 | ||
---|---|---|---|
005 | 20250515184224.0 | ||
264 | 0 | _c20100225 | |
008 | 201002s 0 0 eng d | ||
022 | _a1098-1004 | ||
024 | 7 |
_a10.1002/humu.21096 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aSchorderet, Daniel F | |
245 | 0 | 0 |
_aNR2E3 mutations in enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP). _h[electronic resource] |
260 |
_bHuman mutation _cNov 2009 |
||
300 |
_a1475-85 p. _bdigital |
||
500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't; Review | ||
650 | 0 | 4 | _aAnimals |
650 | 0 | 4 | _aDatabases, Genetic |
650 | 0 | 4 | _aDiagnosis, Differential |
650 | 0 | 4 |
_aEye Diseases, Hereditary _xdiagnosis |
650 | 0 | 4 | _aGenotype |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aMice |
650 | 0 | 4 | _aMutation |
650 | 0 | 4 |
_aOrphan Nuclear Receptors _xchemistry |
650 | 0 | 4 |
_aRetinitis Pigmentosa _xgenetics |
650 | 0 | 4 | _aSyndrome |
700 | 1 | _aEscher, Pascal | |
773 | 0 |
_tHuman mutation _gvol. 30 _gno. 11 _gp. 1475-85 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1002/humu.21096 _zAvailable from publisher's website |
999 |
_c19119874 _d19119874 |