000 02327 a2200685 4500
005 20250515015629.0
264 0 _c20060403
008 200604s 0 0 eng d
022 _a0146-0404
024 7 _a10.1167/iovs.05-0848
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aYzer, Suzanne
245 0 0 _aMicroarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis.
_h[electronic resource]
260 _bInvestigative ophthalmology & visual science
_cMar 2006
300 _a1167-76 p.
_bdigital
500 _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aAdaptor Proteins, Signal Transducing
650 0 4 _aAlcohol Oxidoreductases
_xgenetics
650 0 4 _aBlindness
_xcongenital
650 0 4 _aCarrier Proteins
_xgenetics
650 0 4 _aChild
650 0 4 _aChild, Preschool
650 0 4 _aDNA Mutational Analysis
650 0 4 _aEye Proteins
_xgenetics
650 0 4 _aFemale
650 0 4 _aGenetic Testing
_xmethods
650 0 4 _aGenotype
650 0 4 _aGuanylate Cyclase
_xgenetics
650 0 4 _aHumans
650 0 4 _aInfant
650 0 4 _aMale
650 0 4 _aMembrane Proteins
_xgenetics
650 0 4 _aMutation
650 0 4 _aNerve Tissue Proteins
_xgenetics
650 0 4 _aOligonucleotide Array Sequence Analysis
_xmethods
650 0 4 _aPhenotype
650 0 4 _aReceptors, Cell Surface
_xgenetics
650 0 4 _aRetinitis Pigmentosa
_xcongenital
650 0 4 _acis-trans-Isomerases
700 1 _aLeroy, Bart P
700 1 _aDe Baere, Elfride
700 1 _ade Ravel, Thomy J
700 1 _aZonneveld, Marijke N
700 1 _aVoesenek, Krysta
700 1 _aKellner, Ulrich
700 1 _aCiriano, Jose P Martinez
700 1 _ade Faber, Jan-Tjeerd H N
700 1 _aRohrschneider, Klaus
700 1 _aRoepman, Ronald
700 1 _aden Hollander, Anneke I
700 1 _aCruysberg, Johannes R
700 1 _aMeire, Françoise
700 1 _aCasteels, Ingele
700 1 _avan Moll-Ramirez, Norka G
700 1 _aAllikmets, Rando
700 1 _avan den Born, L Ingeborgh
700 1 _aCremers, Frans P M
773 0 _tInvestigative ophthalmology & visual science
_gvol. 47
_gno. 3
_gp. 1167-76
856 4 0 _uhttps://doi.org/10.1167/iovs.05-0848
_zAvailable from publisher's website
999 _c16115654
_d16115654