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