| 000 | 01692 a2200529 4500 | ||
|---|---|---|---|
| 005 | 20250513132337.0 | ||
| 264 | 0 | _c19980319 | |
| 008 | 199803s 0 0 eng d | ||
| 022 | _a0002-9297 | ||
| 024 | 7 |
_a10.1086/301646 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aBuraczynska, M | |
| 245 | 0 | 0 |
_aSpectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa. _h[electronic resource] |
| 260 |
_bAmerican journal of human genetics _cDec 1997 |
||
| 300 |
_a1287-92 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. | ||
| 650 | 0 | 4 |
_aCarrier Proteins _xgenetics |
| 650 | 0 | 4 | _aCohort Studies |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 |
_aExons _xgenetics |
| 650 | 0 | 4 | _aEye Proteins |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aPoint Mutation |
| 650 | 0 | 4 | _aPolymerase Chain Reaction |
| 650 | 0 | 4 | _aPolymorphism, Genetic |
| 650 | 0 | 4 | _aRNA Splicing |
| 650 | 0 | 4 |
_aRetinitis Pigmentosa _xgenetics |
| 650 | 0 | 4 | _aSequence Deletion |
| 650 | 0 | 4 |
_aX Chromosome _xgenetics |
| 700 | 1 | _aWu, W | |
| 700 | 1 | _aFujita, R | |
| 700 | 1 | _aBuraczynska, K | |
| 700 | 1 | _aPhelps, E | |
| 700 | 1 | _aAndréasson, S | |
| 700 | 1 | _aBennett, J | |
| 700 | 1 | _aBirch, D G | |
| 700 | 1 | _aFishman, G A | |
| 700 | 1 | _aHoffman, D R | |
| 700 | 1 | _aInana, G | |
| 700 | 1 | _aJacobson, S G | |
| 700 | 1 | _aMusarella, M A | |
| 700 | 1 | _aSieving, P A | |
| 700 | 1 | _aSwaroop, A | |
| 773 | 0 |
_tAmerican journal of human genetics _gvol. 61 _gno. 6 _gp. 1287-92 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1086/301646 _zAvailable from publisher's website |
| 999 |
_c9369576 _d9369576 |
||