| 000 | 01449 a2200457 4500 | ||
|---|---|---|---|
| 005 | 20250515093746.0 | ||
| 264 | 0 | _c20080128 | |
| 008 | 200801s 0 0 eng d | ||
| 022 | _a1098-1004 | ||
| 024 | 7 |
_a10.1002/humu.9513 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aGerber, Sylvie | |
| 245 | 0 | 0 |
_aMutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II. _h[electronic resource] |
| 260 |
_bHuman mutation _cDec 2007 |
||
| 300 |
_a1245 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 |
_aEye Proteins _xgenetics |
| 650 | 0 | 4 | _aFamily Health |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenotype |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMicrotubule-Associated Proteins _xgenetics |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aOptic Atrophy, Hereditary, Leber _xgenetics |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 700 | 1 | _aHanein, Sylvain | |
| 700 | 1 | _aPerrault, Isabelle | |
| 700 | 1 | _aDelphin, Nathalie | |
| 700 | 1 | _aAboussair, Nisrine | |
| 700 | 1 | _aLeowski, Corinne | |
| 700 | 1 | _aDufier, Jean-Louis | |
| 700 | 1 | _aRoche, Olivier | |
| 700 | 1 | _aMunnich, Arnold | |
| 700 | 1 | _aKaplan, Josseline | |
| 700 | 1 | _aRozet, Jean-Michel | |
| 773 | 0 |
_tHuman mutation _gvol. 28 _gno. 12 _gp. 1245 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/humu.9513 _zAvailable from publisher's website |
| 999 |
_c17518007 _d17518007 |
||