| 000 | 01531 a2200529 4500 | ||
|---|---|---|---|
| 005 | 20250516203900.0 | ||
| 264 | 0 | _c20140930 | |
| 008 | 201409s 0 0 eng d | ||
| 022 | _a1090-0535 | ||
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aContestabile, Maria T | |
| 245 | 0 | 0 |
_aClinical and genetic studies in a family with a new splice-site mutation in the choroideremia gene. _h[electronic resource] |
| 260 |
_bMolecular vision _c2014 |
||
| 300 |
_a325-33 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 |
_aAdaptor Proteins, Signal Transducing _xgenetics |
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aAged |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 |
_aChoroideremia _xgenetics |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aElectroretinography |
| 650 | 0 | 4 | _aFamily |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aFluorescein Angiography |
| 650 | 0 | 4 | _aFundus Oculi |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aImmunoblotting |
| 650 | 0 | 4 | _aItaly |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMiddle Aged |
| 650 | 0 | 4 |
_aMutation _xgenetics |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aRNA Splice Sites _xgenetics |
| 650 | 0 | 4 | _aTomography, Optical Coherence |
| 650 | 0 | 4 | _aVisual Fields |
| 650 | 0 | 4 | _aYoung Adult |
| 700 | 1 | _aPiane, Maria | |
| 700 | 1 | _aCascone, Nikhil C | |
| 700 | 1 | _aPasquale, Nadia | |
| 700 | 1 | _aCiarnella, Angela | |
| 700 | 1 | _aRecupero, Santi M | |
| 700 | 1 | _aChessa, Luciana | |
| 773 | 0 |
_tMolecular vision _gvol. 20 _gp. 325-33 |
|
| 999 |
_c23679919 _d23679919 |
||