| 000 | 01432 a2200433 4500 | ||
|---|---|---|---|
| 005 | 20250517142548.0 | ||
| 264 | 0 | _c20180220 | |
| 008 | 201802s 0 0 eng d | ||
| 022 | _a1098-1004 | ||
| 024 | 7 |
_a10.1002/humu.23212 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aRadziwon, Alina | |
| 245 | 0 | 0 |
_aSingle-base substitutions in the CHM promoter as a cause of choroideremia. _h[electronic resource] |
| 260 |
_bHuman mutation _c06 2017 |
||
| 300 |
_a704-715 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aAdaptor Proteins, Signal Transducing _xgenetics |
| 650 | 0 | 4 |
_aChoroideremia _xcomplications |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenetic Diseases, X-Linked |
| 650 | 0 | 4 | _aGenetic Predisposition to Disease |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 |
_aPromoter Regions, Genetic _xgenetics |
| 650 | 0 | 4 |
_aRetina _xmetabolism |
| 650 | 0 | 4 |
_aRetinal Degeneration _xcomplications |
| 700 | 1 | _aArno, Gavin | |
| 700 | 1 | _aK Wheaton, Dianna | |
| 700 | 1 | _aMcDonagh, Ellen M | |
| 700 | 1 | _aBaple, Emma L | |
| 700 | 1 | _aWebb-Jones, Kaylie | |
| 700 | 1 | _aG Birch, David | |
| 700 | 1 | _aWebster, Andrew R | |
| 700 | 1 | _aMacDonald, Ian M | |
| 773 | 0 |
_tHuman mutation _gvol. 38 _gno. 6 _gp. 704-715 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/humu.23212 _zAvailable from publisher's website |
| 999 |
_c26947212 _d26947212 |
||