000 01879 a2200529 4500
005 20250514080449.0
264 0 _c20030923
008 200309s 0 0 eng d
022 _a0003-9950
024 7 _a10.1001/archopht.121.9.1316
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aSharon, Dror
245 0 0 _aShared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration.
_h[electronic resource]
260 _bArchives of ophthalmology (Chicago, Ill. : 1960)
_cSep 2003
300 _a1316-23 p.
_bdigital
500 _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
650 0 4 _aAdolescent
650 0 4 _aAdult
650 0 4 _aChild
650 0 4 _aDark Adaptation
650 0 4 _aElectroretinography
650 0 4 _aEye Diseases, Hereditary
_xgenetics
650 0 4 _aFemale
650 0 4 _aFrameshift Mutation
650 0 4 _aHumans
650 0 4 _aHyperopia
_xgenetics
650 0 4 _aMale
650 0 4 _aMiddle Aged
650 0 4 _aMutation, Missense
650 0 4 _aNight Blindness
_xgenetics
650 0 4 _aOrphan Nuclear Receptors
650 0 4 _aPedigree
650 0 4 _aPolymorphism, Single-Stranded Conformational
650 0 4 _aReceptors, Cytoplasmic and Nuclear
_xgenetics
650 0 4 _aRetinal Degeneration
_xgenetics
650 0 4 _aSequence Analysis, DNA
650 0 4 _aSyndrome
650 0 4 _aTranscription Factors
_xgenetics
650 0 4 _aVisual Acuity
650 0 4 _aVisual Fields
700 1 _aSandberg, Michael A
700 1 _aCaruso, Rafael C
700 1 _aBerson, Eliot L
700 1 _aDryja, Thaddeus P
773 0 _tArchives of ophthalmology (Chicago, Ill. : 1960)
_gvol. 121
_gno. 9
_gp. 1316-23
856 4 0 _uhttps://doi.org/10.1001/archopht.121.9.1316
_zAvailable from publisher's website
999 _c12731876
_d12731876