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 |