| 000 | 01608 a2200529 4500 | ||
|---|---|---|---|
| 005 | 20250516184410.0 | ||
| 264 | 0 | _c20140721 | |
| 008 | 201407s 0 0 eng d | ||
| 022 | _a1090-0535 | ||
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aBowne, Sara J | |
| 245 | 0 | 0 |
_aMutations in the small nuclear riboprotein 200 kDa gene (SNRNP200) cause 1.6% of autosomal dominant retinitis pigmentosa. _h[electronic resource] |
| 260 |
_bMolecular vision _c2013 |
||
| 300 |
_a2407-17 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aAged |
| 650 | 0 | 4 | _aCohort Studies |
| 650 | 0 | 4 | _aExons |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenes, Dominant |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aIntrons |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMiddle Aged |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPenetrance |
| 650 | 0 | 4 | _aPolymorphism, Genetic |
| 650 | 0 | 4 |
_aRetinitis Pigmentosa _xgenetics |
| 650 | 0 | 4 |
_aRibonucleoproteins, Small Nuclear _xgenetics |
| 650 | 0 | 4 | _aSequence Analysis, DNA |
| 650 | 0 | 4 | _aSeverity of Illness Index |
| 700 | 1 | _aSullivan, Lori S | |
| 700 | 1 | _aAvery, Cheryl E | |
| 700 | 1 | _aSasser, Elizabeth M | |
| 700 | 1 | _aRoorda, Austin | |
| 700 | 1 | _aDuncan, Jacque L | |
| 700 | 1 | _aWheaton, Dianna H | |
| 700 | 1 | _aBirch, David G | |
| 700 | 1 | _aBranham, Kari E | |
| 700 | 1 | _aHeckenlively, John R | |
| 700 | 1 | _aSieving, Paul A | |
| 700 | 1 | _aDaiger, Stephen P | |
| 773 | 0 |
_tMolecular vision _gvol. 19 _gp. 2407-17 |
|
| 999 |
_c23349374 _d23349374 |
||