| 000 | 01783 a2200505 4500 | ||
|---|---|---|---|
| 005 | 20250517111338.0 | ||
| 264 | 0 | _c20170609 | |
| 008 | 201706s 0 0 eng d | ||
| 022 | _a1460-2083 | ||
| 024 | 7 |
_a10.1093/hmg/ddw254 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aDowns, Louise M | |
| 245 | 0 | 0 |
_aOverlap of abnormal photoreceptor development and progressive degeneration in Leber congenital amaurosis caused by NPHP5 mutation. _h[electronic resource] |
| 260 |
_bHuman molecular genetics _c10 2016 |
||
| 300 |
_a4211-4226 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural | ||
| 650 | 0 | 4 | _aAnimals |
| 650 | 0 | 4 |
_aCalmodulin-Binding Proteins _xgenetics |
| 650 | 0 | 4 |
_aCilia _xgenetics |
| 650 | 0 | 4 | _aDisease Models, Animal |
| 650 | 0 | 4 | _aDogs |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aLeber Congenital Amaurosis _xgenetics |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aPhotoreceptor Cells _xmetabolism |
| 650 | 0 | 4 |
_aRetina _xpathology |
| 650 | 0 | 4 |
_aRetinal Cone Photoreceptor Cells _xmetabolism |
| 650 | 0 | 4 |
_aRetinal Rod Photoreceptor Cells _xmetabolism |
| 700 | 1 | _aScott, Erin M | |
| 700 | 1 | _aCideciyan, Artur V | |
| 700 | 1 | _aIwabe, Simone | |
| 700 | 1 | _aDufour, Valerie | |
| 700 | 1 | _aGardiner, Kristin L | |
| 700 | 1 | _aGenini, Sem | |
| 700 | 1 | _aMarinho, Luis Felipe | |
| 700 | 1 | _aSumaroka, Alexander | |
| 700 | 1 | _aKosyk, Mychajlo S | |
| 700 | 1 | _aSwider, Malgorzata | |
| 700 | 1 | _aAguirre, Geoffrey K | |
| 700 | 1 | _aJacobson, Samuel G | |
| 700 | 1 | _aBeltran, William A | |
| 700 | 1 | _aAguirre, Gustavo D | |
| 773 | 0 |
_tHuman molecular genetics _gvol. 25 _gno. 19 _gp. 4211-4226 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1093/hmg/ddw254 _zAvailable from publisher's website |
| 999 |
_c26312350 _d26312350 |
||