| 000 | 01605 a2200505 4500 | ||
|---|---|---|---|
| 005 | 20250515061109.0 | ||
| 264 | 0 | _c20070501 | |
| 008 | 200705s 0 0 eng d | ||
| 022 | _a1098-1004 | ||
| 024 | 7 |
_a10.1002/humu.9485 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aPerrault, Isabelle | |
| 245 | 0 | 0 |
_aSpectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype. _h[electronic resource] |
| 260 |
_bHuman mutation _cApr 2007 |
||
| 300 |
_a416 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aAlleles |
| 650 | 0 | 4 |
_aAntigens, Neoplasm _xgenetics |
| 650 | 0 | 4 | _aCell Cycle Proteins |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aCytoskeletal Proteins |
| 650 | 0 | 4 | _aExons |
| 650 | 0 | 4 | _aFrameshift Mutation |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aIntrons |
| 650 | 0 | 4 | _aLinkage Disequilibrium |
| 650 | 0 | 4 |
_aNeoplasm Proteins _xgenetics |
| 650 | 0 | 4 |
_aOptic Atrophy, Hereditary, Leber _xgenetics |
| 700 | 1 | _aDelphin, Nathalie | |
| 700 | 1 | _aHanein, Sylvain | |
| 700 | 1 | _aGerber, Sylvie | |
| 700 | 1 | _aDufier, Jean-Louis | |
| 700 | 1 | _aRoche, Olivier | |
| 700 | 1 | _aDefoort-Dhellemmes, Sabine | |
| 700 | 1 | _aDollfus, Hélène | |
| 700 | 1 | _aFazzi, Elisa | |
| 700 | 1 | _aMunnich, Arnold | |
| 700 | 1 | _aKaplan, Josseline | |
| 700 | 1 | _aRozet, Jean-Michel | |
| 773 | 0 |
_tHuman mutation _gvol. 28 _gno. 4 _gp. 416 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/humu.9485 _zAvailable from publisher's website |
| 999 |
_c16902081 _d16902081 |
||