| 000 | 01730 a2200565 4500 | ||
|---|---|---|---|
| 005 | 20250513054807.0 | ||
| 264 | 0 | _c19940804 | |
| 008 | 199408s 0 0 eng d | ||
| 022 | _a1059-7794 | ||
| 024 | 7 |
_a10.1002/humu.1380030326 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aGrüning, G | |
| 245 | 0 | 0 |
_aMutations in the human peripherin/RDS gene associated with autosomal dominant retinitis pigmentosa. _h[electronic resource] |
| 260 |
_bHuman mutation _c1994 |
||
| 300 |
_a321-3 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aAged |
| 650 | 0 | 4 | _aAmino Acid Sequence |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 | _aCodon |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenes, Dominant |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aIntermediate Filament Proteins _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMembrane Glycoproteins |
| 650 | 0 | 4 | _aMiddle Aged |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aNerve Tissue Proteins |
| 650 | 0 | 4 |
_aNeuropeptides _xgenetics |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPeripherins |
| 650 | 0 | 4 |
_aPolymerase Chain Reaction _xmethods |
| 650 | 0 | 4 |
_aRetinitis Pigmentosa _xgenetics |
| 650 | 0 | 4 |
_aRod Cell Outer Segment _xmetabolism |
| 650 | 0 | 4 | _aSequence Deletion |
| 700 | 1 | _aMillan, J M | |
| 700 | 1 | _aMeins, M | |
| 700 | 1 | _aBeneyto, M | |
| 700 | 1 | _aCaballero, M | |
| 700 | 1 | _aApfelstedt-Sylla, E | |
| 700 | 1 | _aBosch, R | |
| 700 | 1 | _aZrenner, E | |
| 700 | 1 | _aPrieto, F | |
| 700 | 1 | _aGal, A | |
| 773 | 0 |
_tHuman mutation _gvol. 3 _gno. 3 _gp. 321-3 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/humu.1380030326 _zAvailable from publisher's website |
| 999 |
_c8018897 _d8018897 |
||