| 000 | 01813 a2200553 4500 | ||
|---|---|---|---|
| 005 | 20250514004650.0 | ||
| 264 | 0 | _c20010906 | |
| 008 | 200109s 0 0 eng d | ||
| 022 | _a0002-9297 | ||
| 024 | 7 |
_a10.1086/323265 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aWilkie, S E | |
| 245 | 0 | 0 |
_aIdentification and functional consequences of a new mutation (E155G) in the gene for GCAP1 that causes autosomal dominant cone dystrophy. _h[electronic resource] |
| 260 |
_bAmerican journal of human genetics _cSep 2001 |
||
| 300 |
_a471-80 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 | _aAmino Acid Sequence |
| 650 | 0 | 4 | _aAmino Acid Substitution |
| 650 | 0 | 4 |
_aCalcium-Binding Proteins _xchemistry |
| 650 | 0 | 4 |
_aCorneal Dystrophies, Hereditary _xgenetics |
| 650 | 0 | 4 |
_aDNA _xanalysis |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aGlutamic Acid _xgenetics |
| 650 | 0 | 4 |
_aGlycine _xgenetics |
| 650 | 0 | 4 | _aGuanylate Cyclase-Activating Proteins |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aModels, Molecular |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aProtein Conformation |
| 650 | 0 | 4 | _aPyrimidines |
| 650 | 0 | 4 | _aSequence Homology, Amino Acid |
| 700 | 1 | _aLi, Y | |
| 700 | 1 | _aDeery, E C | |
| 700 | 1 | _aNewbold, R J | |
| 700 | 1 | _aGaribaldi, D | |
| 700 | 1 | _aBateman, J B | |
| 700 | 1 | _aZhang, H | |
| 700 | 1 | _aLin, W | |
| 700 | 1 | _aZack, D J | |
| 700 | 1 | _aBhattacharya, S S | |
| 700 | 1 | _aWarren, M J | |
| 700 | 1 | _aHunt, D M | |
| 700 | 1 | _aZhang, K | |
| 773 | 0 |
_tAmerican journal of human genetics _gvol. 69 _gno. 3 _gp. 471-80 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1086/323265 _zAvailable from publisher's website |
| 999 |
_c11411126 _d11411126 |
||