| 000 | 01686 a2200457 4500 | ||
|---|---|---|---|
| 005 | 20250517055130.0 | ||
| 264 | 0 | _c20161019 | |
| 008 | 201610s 0 0 eng d | ||
| 022 | _a1364-6753 | ||
| 024 | 7 |
_a10.1007/s10048-015-0463-z _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aRodríguez-García, María Elena | |
| 245 | 0 | 0 |
_aFirst missense mutation outside of SERAC1 lipase domain affecting intracellular cholesterol trafficking. _h[electronic resource] |
| 260 |
_bNeurogenetics _cJan 2016 |
||
| 300 |
_a51-6 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aBiological Transport _xgenetics |
| 650 | 0 | 4 |
_aBrain Diseases, Metabolic, Inborn _xgenetics |
| 650 | 0 | 4 |
_aCarboxylic Ester Hydrolases _xchemistry |
| 650 | 0 | 4 |
_aCatalytic Domain _xgenetics |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 |
_aCholesterol _xmetabolism |
| 650 | 0 | 4 | _aConsanguinity |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aIntracellular Space _xmetabolism |
| 650 | 0 | 4 |
_aLipase _xchemistry |
| 650 | 0 | 4 |
_aLipid Metabolism, Inborn Errors _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 |
_aNeurodegenerative Diseases _xgenetics |
| 650 | 0 | 4 |
_aProtein Structure, Tertiary _xgenetics |
| 700 | 1 | _aMartín-Hernández, Elena | |
| 700 | 1 | _ade Aragón, Ana Martínez | |
| 700 | 1 | _aGarcía-Silva, María Teresa | |
| 700 | 1 | _aQuijada-Fraile, Pilar | |
| 700 | 1 | _aArenas, Joaquín | |
| 700 | 1 | _aMartín, Miguel A | |
| 700 | 1 | _aMartínez-Azorín, Francisco | |
| 773 | 0 |
_tNeurogenetics _gvol. 17 _gno. 1 _gp. 51-6 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1007/s10048-015-0463-z _zAvailable from publisher's website |
| 999 |
_c25333732 _d25333732 |
||