| 000 | 01601 a2200529 4500 | ||
|---|---|---|---|
| 005 | 20250515125619.0 | ||
| 264 | 0 | _c20091231 | |
| 008 | 200912s 0 0 eng d | ||
| 022 | _a1468-6244 | ||
| 024 | 7 |
_a10.1136/jmg.2008.059881 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aBurgess, R | |
| 245 | 0 | 0 |
_aADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicing. _h[electronic resource] |
| 260 |
_bJournal of medical genetics _cSep 2009 |
||
| 300 |
_a620-5 p. _bdigital |
||
| 500 | _aPublication Type: Letter; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 | _aBestrophins |
| 650 | 0 | 4 |
_aChloride Channels _xgenetics |
| 650 | 0 | 4 |
_aChoroid Diseases _xgenetics |
| 650 | 0 | 4 | _aExons |
| 650 | 0 | 4 |
_aEye Proteins _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMiddle Aged |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aProtein Binding |
| 650 | 0 | 4 |
_aRNA Splicing _xgenetics |
| 650 | 0 | 4 |
_aRNA, Messenger _xgenetics |
| 650 | 0 | 4 |
_aRetinal Diseases _xgenetics |
| 650 | 0 | 4 | _aSequence Alignment |
| 700 | 1 | _aMacLaren, R E | |
| 700 | 1 | _aDavidson, A E | |
| 700 | 1 | _aUrquhart, J E | |
| 700 | 1 | _aHolder, G E | |
| 700 | 1 | _aRobson, A G | |
| 700 | 1 | _aMoore, A T | |
| 700 | 1 | _aKeefe, R O' | |
| 700 | 1 | _aBlack, G C M | |
| 700 | 1 | _aManson, F D C | |
| 773 | 0 |
_tJournal of medical genetics _gvol. 46 _gno. 9 _gp. 620-5 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1136/jmg.2008.059881 _zAvailable from publisher's website |
| 999 |
_c18093677 _d18093677 |
||