| 000 | 01577 a2200529 4500 | ||
|---|---|---|---|
| 005 | 20250517101824.0 | ||
| 264 | 0 | _c20180115 | |
| 008 | 201801s 0 0 eng d | ||
| 022 | _a1090-0535 | ||
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aKabir, Firoz | |
| 245 | 0 | 0 |
_aLoss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases. _h[electronic resource] |
| 260 |
_bMolecular vision _c2016 |
||
| 300 |
_a610-25 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article | ||
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 | _aConsanguinity |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aElectroretinography |
| 650 | 0 | 4 | _aExons |
| 650 | 0 | 4 |
_aEye Proteins _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenetic Linkage |
| 650 | 0 | 4 | _aGenome-Wide Association Study |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aLod Score |
| 650 | 0 | 4 | _aLoss of Function Mutation |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMicrotubule-Associated Proteins |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPolymerase Chain Reaction |
| 650 | 0 | 4 |
_aRetinitis Pigmentosa _xdiagnosis |
| 650 | 0 | 4 | _aYoung Adult |
| 700 | 1 | _aUllah, Inayat | |
| 700 | 1 | _aAli, Shahbaz | |
| 700 | 1 | _aGottsch, Alexander D H | |
| 700 | 1 | _aNaeem, Muhammad Asif | |
| 700 | 1 | _aAssir, Muhammad Zaman | |
| 700 | 1 | _aKhan, Shaheen N | |
| 700 | 1 | _aAkram, Javed | |
| 700 | 1 | _aRiazuddin, Sheikh | |
| 700 | 1 | _aAyyagari, Radha | |
| 700 | 1 | _aHejtmancik, J Fielding | |
| 700 | 1 | _aRiazuddin, S Amer | |
| 773 | 0 |
_tMolecular vision _gvol. 22 _gp. 610-25 |
|
| 999 |
_c26129192 _d26129192 |
||