| 000 | 01385 a2200445 4500 | ||
|---|---|---|---|
| 005 | 20250515044219.0 | ||
| 264 | 0 | _c20070116 | |
| 008 | 200701s 0 0 eng d | ||
| 022 | _a1120-6721 | ||
| 024 | 7 |
_a10.1177/112067210601600524 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aTesta, F | |
| 245 | 0 | 0 |
_aClinical phenotype of an Italian family with a new mutation in the PRPF8 gene. _h[electronic resource] |
| 260 |
_bEuropean journal of ophthalmology _c |
||
| 300 |
_a779-81 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aCarrier Proteins _xgenetics |
| 650 | 0 | 4 |
_aDNA _xgenetics |
| 650 | 0 | 4 | _aElectroretinography |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aItaly |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aOphthalmoscopy |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aRNA-Binding Proteins |
| 650 | 0 | 4 |
_aRetinitis Pigmentosa _xdiagnosis |
| 700 | 1 | _aZiviello, C | |
| 700 | 1 | _aRinaldi, M | |
| 700 | 1 | _aRossi, S | |
| 700 | 1 | _aDi Iorio, V | |
| 700 | 1 | _aInterlandi, E | |
| 700 | 1 | _aCiccodicola, A | |
| 700 | 1 | _aBanfi, S | |
| 700 | 1 | _aSimonelli, F | |
| 773 | 0 |
_tEuropean journal of ophthalmology _gvol. 16 _gno. 5 _gp. 779-81 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1177/112067210601600524 _zAvailable from publisher's website |
| 999 |
_c16636092 _d16636092 |
||