| 000 | 01325 a2200397 4500 | ||
|---|---|---|---|
| 005 | 20250514050904.0 | ||
| 264 | 0 | _c20030103 | |
| 008 | 200301s 0 0 eng d | ||
| 022 | _a1098-1004 | ||
| 024 | 7 |
_a10.1002/humu.9072 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aPusch, Carsten M | |
| 245 | 0 | 0 |
_aTen novel ORF15 mutations confirm mutational hot spot in the RPGR gene in European patients with X-linked retinitis pigmentosa. _h[electronic resource] |
| 260 |
_bHuman mutation _cNov 2002 |
||
| 300 |
_a405 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aCarrier Proteins _xgenetics |
| 650 | 0 | 4 | _aEurope |
| 650 | 0 | 4 | _aExons |
| 650 | 0 | 4 | _aEye Proteins |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aFrameshift Mutation |
| 650 | 0 | 4 |
_aGenetic Diseases, X-Linked _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aOpen Reading Frames |
| 650 | 0 | 4 | _aPolymorphism, Single Nucleotide |
| 650 | 0 | 4 |
_aRetinitis Pigmentosa _xgenetics |
| 700 | 1 | _aBroghammer, Martina | |
| 700 | 1 | _aJurklies, Bernhard | |
| 700 | 1 | _aBesch, Dorothea | |
| 700 | 1 | _aJacobi, Felix K | |
| 773 | 0 |
_tHuman mutation _gvol. 20 _gno. 5 _gp. 405 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/humu.9072 _zAvailable from publisher's website |
| 999 |
_c12210841 _d12210841 |
||