| 000 | 01564 a2200469 4500 | ||
|---|---|---|---|
| 005 | 20250514223116.0 | ||
| 264 | 0 | _c20050425 | |
| 008 | 200504s 0 0 eng d | ||
| 022 | _a0002-9394 | ||
| 024 | 7 |
_a10.1016/j.ajo.2004.10.002 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aYoshimura, Keiko | |
| 245 | 0 | 0 |
_aDe novo insG619 mutation in PAX2 gene in a Japanese patient with papillorenal syndrome. _h[electronic resource] |
| 260 |
_bAmerican journal of ophthalmology _cApr 2005 |
||
| 300 |
_a733-5 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 |
_aAbnormalities, Multiple _xgenetics |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aColoboma _xgenetics |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 |
_aDNA-Binding Proteins _xgenetics |
| 650 | 0 | 4 |
_aExons _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aKidney _xabnormalities |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 |
_aOptic Disk _xabnormalities |
| 650 | 0 | 4 |
_aOptic Nerve _xabnormalities |
| 650 | 0 | 4 | _aPAX2 Transcription Factor |
| 650 | 0 | 4 | _aSyndrome |
| 650 | 0 | 4 |
_aTranscription Factors _xgenetics |
| 650 | 0 | 4 | _aUltrasonography |
| 700 | 1 | _aYoshida, Shigeo | |
| 700 | 1 | _aYamaji, Yoko | |
| 700 | 1 | _aKomori, Aiko | |
| 700 | 1 | _aYoshida, Ayako | |
| 700 | 1 | _aHatae, Ken | |
| 700 | 1 | _aKubota, Toshiaki | |
| 700 | 1 | _aIshibashi, Tatsuro | |
| 773 | 0 |
_tAmerican journal of ophthalmology _gvol. 139 _gno. 4 _gp. 733-5 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ajo.2004.10.002 _zAvailable from publisher's website |
| 999 |
_c15478108 _d15478108 |
||