| 000 | 01695 a2200517 4500 | ||
|---|---|---|---|
| 005 | 20250515225519.0 | ||
| 264 | 0 | _c20100819 | |
| 008 | 201008s 0 0 eng d | ||
| 022 | _a1468-2079 | ||
| 024 | 7 |
_a10.1136/bjo.2009.171892 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aShahzadi, Amber | |
| 245 | 0 | 0 |
_aNonsense mutation in MERTK causes autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family. _h[electronic resource] |
| 260 |
_bThe British journal of ophthalmology _cAug 2010 |
||
| 300 |
_a1094-9 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 |
_aChromosomes, Human, Pair 2 _xgenetics |
| 650 | 0 | 4 | _aCodon, Nonsense |
| 650 | 0 | 4 | _aElectroretinography |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenetic Linkage |
| 650 | 0 | 4 | _aGenotype |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aLod Score |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMiddle Aged |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 |
_aProto-Oncogene Proteins _xgenetics |
| 650 | 0 | 4 |
_aReceptor Protein-Tyrosine Kinases _xgenetics |
| 650 | 0 | 4 |
_aRetinitis Pigmentosa _xgenetics |
| 650 | 0 | 4 | _aVisual Acuity |
| 650 | 0 | 4 | _ac-Mer Tyrosine Kinase |
| 700 | 1 | _aRiazuddin, S Amer | |
| 700 | 1 | _aAli, Shahbaz | |
| 700 | 1 | _aLi, David | |
| 700 | 1 | _aKhan, Shaheen N | |
| 700 | 1 | _aHusnain, Tayyab | |
| 700 | 1 | _aAkram, Javed | |
| 700 | 1 | _aSieving, Paul A | |
| 700 | 1 | _aHejtmancik, J Fielding | |
| 700 | 1 | _aRiazuddin, Sheikh | |
| 773 | 0 |
_tThe British journal of ophthalmology _gvol. 94 _gno. 8 _gp. 1094-9 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1136/bjo.2009.171892 _zAvailable from publisher's website |
| 999 |
_c19888547 _d19888547 |
||