| 000 | 01645 a2200505 4500 | ||
|---|---|---|---|
| 005 | 20250515132423.0 | ||
| 264 | 0 | _c20081203 | |
| 008 | 200812s 0 0 eng d | ||
| 022 | _a1468-2079 | ||
| 024 | 7 |
_a10.1136/bjo.2008.143776 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aTesta, F | |
| 245 | 0 | 0 |
_aA normal electro-oculography in a family affected by best disease with a novel spontaneous mutation of the BEST1 gene. _h[electronic resource] |
| 260 |
_bThe British journal of ophthalmology _cNov 2008 |
||
| 300 |
_a1467-70 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aBestrophins |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aChloride Channels _xgenetics |
| 650 | 0 | 4 |
_aCorneal Dystrophies, Hereditary _xgenetics |
| 650 | 0 | 4 |
_aDNA Mutational Analysis _xmethods |
| 650 | 0 | 4 |
_aElectrooculography _xinstrumentation |
| 650 | 0 | 4 |
_aEye Proteins _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenetic Linkage |
| 650 | 0 | 4 | _aGenotype |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMutation, Missense _xgenetics |
| 650 | 0 | 4 | _aPedigree |
| 700 | 1 | _aRossi, S | |
| 700 | 1 | _aPasserini, I | |
| 700 | 1 | _aSodi, A | |
| 700 | 1 | _aDi Iorio, V | |
| 700 | 1 | _aInterlandi, E | |
| 700 | 1 | _aDella Corte, M | |
| 700 | 1 | _aMenchini, U | |
| 700 | 1 | _aRinaldi, E | |
| 700 | 1 | _aTorricelli, F | |
| 700 | 1 | _aSimonelli, F | |
| 773 | 0 |
_tThe British journal of ophthalmology _gvol. 92 _gno. 11 _gp. 1467-70 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1136/bjo.2008.143776 _zAvailable from publisher's website |
| 999 |
_c18176609 _d18176609 |
||