| 000 | 01578 a2200469 4500 | ||
|---|---|---|---|
| 005 | 20250517182950.0 | ||
| 264 | 0 | _c20180326 | |
| 008 | 201803s 0 0 eng d | ||
| 022 | _a1744-5094 | ||
| 024 | 7 |
_a10.1080/13816810.2017.1393825 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aEscher, Pascal | |
| 245 | 0 | 0 |
_aVariability in clinical phenotypes of PRPF8-linked autosomal dominant retinitis pigmentosa correlates with differential PRPF8/SNRNP200 interactions. _h[electronic resource] |
| 260 |
_bOphthalmic genetics _c |
||
| 300 |
_a80-86 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aAmino Acid Sequence |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aFluorescein Angiography |
| 650 | 0 | 4 | _aGenes, Dominant |
| 650 | 0 | 4 | _aGenetic Association Studies |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMiddle Aged |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aProtein Conformation |
| 650 | 0 | 4 |
_aRNA-Binding Proteins _xgenetics |
| 650 | 0 | 4 |
_aRetinitis Pigmentosa _xdiagnosis |
| 650 | 0 | 4 |
_aRibonucleoproteins, Small Nuclear _xgenetics |
| 650 | 0 | 4 | _aTomography, Optical Coherence |
| 700 | 1 | _aPassarin, Olga | |
| 700 | 1 | _aMunier, Francis L | |
| 700 | 1 | _aTran, Viet H | |
| 700 | 1 | _aVaclavik, Veronika | |
| 773 | 0 |
_tOphthalmic genetics _gvol. 39 _gno. 1 _gp. 80-86 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1080/13816810.2017.1393825 _zAvailable from publisher's website |
| 999 |
_c27738603 _d27738603 |
||