| 000 | 01593 a2200457 4500 | ||
|---|---|---|---|
| 005 | 20250514054511.0 | ||
| 264 | 0 | _c20030307 | |
| 008 | 200303s 0 0 eng d | ||
| 022 | _a1471-2156 | ||
| 024 | 7 |
_a10.1186/1471-2156-4-1 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aFaugère, Valérie | |
| 245 | 0 | 0 |
_aIdentification of three novel OA1 gene mutations identified in three families misdiagnosed with congenital nystagmus and carrier status determination by real-time quantitative PCR assay. _h[electronic resource] |
| 260 |
_bBMC genetics _cJan 2003 |
||
| 300 |
_a1 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 |
_aAlbinism, Ocular _xdiagnosis |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 |
_aChromosomes, Human, X _xgenetics |
| 650 | 0 | 4 | _aComputer Systems |
| 650 | 0 | 4 | _aDiagnostic Errors |
| 650 | 0 | 4 |
_aExons _xgenetics |
| 650 | 0 | 4 |
_aEye Proteins _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGene Dosage |
| 650 | 0 | 4 |
_aGenetic Carrier Screening _xmethods |
| 650 | 0 | 4 |
_aGenetic Markers _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMembrane Glycoproteins _xgenetics |
| 650 | 0 | 4 |
_aMutation _xgenetics |
| 650 | 0 | 4 |
_aNystagmus, Congenital _xdiagnosis |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 |
_aPolymerase Chain Reaction _xmethods |
| 700 | 1 | _aTuffery-Giraud, Sylvie | |
| 700 | 1 | _aHamel, Christian | |
| 700 | 1 | _aClaustres, Mireille | |
| 773 | 0 |
_tBMC genetics _gvol. 4 _gp. 1 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1186/1471-2156-4-1 _zAvailable from publisher's website |
| 999 |
_c12318509 _d12318509 |
||