| 000 | 01862 a2200505 4500 | ||
|---|---|---|---|
| 005 | 20250516133103.0 | ||
| 264 | 0 | _c20130409 | |
| 008 | 201304s 0 0 eng d | ||
| 022 | _a1552-5783 | ||
| 024 | 7 |
_a10.1167/iovs.12-11541 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aChurchill, Jennifer D | |
| 245 | 0 | 0 |
_aMutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa. _h[electronic resource] |
| 260 |
_bInvestigative ophthalmology & visual science _cFeb 2013 |
||
| 300 |
_a1411-6 p. _bdigital |
||
| 500 | _aPublication Type: Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 |
_aDNA _xgenetics |
| 650 | 0 | 4 | _aElectroretinography |
| 650 | 0 | 4 |
_aEye Proteins _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGTP-Binding Proteins |
| 650 | 0 | 4 |
_aGenes, X-Linked _xgenetics |
| 650 | 0 | 4 |
_aGenetic Diseases, X-Linked _xdiagnosis |
| 650 | 0 | 4 | _aGuanine Nucleotide Exchange Factors |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aIntracellular Signaling Peptides and Proteins _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMembrane Proteins _xgenetics |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aPolymerase Chain Reaction |
| 650 | 0 | 4 |
_aRetinitis Pigmentosa _xdiagnosis |
| 700 | 1 | _aBowne, Sara J | |
| 700 | 1 | _aSullivan, Lori S | |
| 700 | 1 | _aLewis, Richard Alan | |
| 700 | 1 | _aWheaton, Dianna K | |
| 700 | 1 | _aBirch, David G | |
| 700 | 1 | _aBranham, Kari E | |
| 700 | 1 | _aHeckenlively, John R | |
| 700 | 1 | _aDaiger, Stephen P | |
| 773 | 0 |
_tInvestigative ophthalmology & visual science _gvol. 54 _gno. 2 _gp. 1411-6 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1167/iovs.12-11541 _zAvailable from publisher's website |
| 999 |
_c22468508 _d22468508 |
||