| 000 | 01303 a2200361 4500 | ||
|---|---|---|---|
| 005 | 20250517184411.0 | ||
| 264 | 0 | _c20190107 | |
| 008 | 201901s 0 0 eng d | ||
| 022 | _a1098-1004 | ||
| 024 | 7 |
_a10.1002/humu.23370 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aSignorino, Giulia | |
| 245 | 0 | 0 |
_aA dystroglycan mutation (p.Cys667Phe) associated to muscle-eye-brain disease with multicystic leucodystrophy results in ER-retention of the mutant protein. _h[electronic resource] |
| 260 |
_bHuman mutation _c02 2018 |
||
| 300 |
_a266-280 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aCell Line |
| 650 | 0 | 4 |
_aDystroglycans _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aLeukoencephalopathies _xgenetics |
| 650 | 0 | 4 |
_aMutant Proteins _xgenetics |
| 650 | 0 | 4 |
_aWalker-Warburg Syndrome _xgenetics |
| 700 | 1 | _aCovaceuszach, Sonia | |
| 700 | 1 | _aBozzi, Manuela | |
| 700 | 1 | _aHübner, Wolfgang | |
| 700 | 1 | _aMönkemöller, Viola | |
| 700 | 1 | _aKonarev, Petr V | |
| 700 | 1 | _aCassetta, Alberto | |
| 700 | 1 | _aBrancaccio, Andrea | |
| 700 | 1 | _aSciandra, Francesca | |
| 773 | 0 |
_tHuman mutation _gvol. 39 _gno. 2 _gp. 266-280 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/humu.23370 _zAvailable from publisher's website |
| 999 |
_c27785193 _d27785193 |
||