| 000 | 01782 a2200517 4500 | ||
|---|---|---|---|
| 005 | 20250517115923.0 | ||
| 264 | 0 | _c20180209 | |
| 008 | 201802s 0 0 eng d | ||
| 022 | _a1364-6753 | ||
| 024 | 7 |
_a10.1007/s10048-016-0496-y _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aMartín-Hernández, Elena | |
| 245 | 0 | 0 |
_aNew ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy. _h[electronic resource] |
| 260 |
_bNeurogenetics _c10 2016 |
||
| 300 |
_a259-263 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article | ||
| 650 | 0 | 4 |
_aAdenosine Triphosphatases _xgenetics |
| 650 | 0 | 4 |
_aBrain Diseases _xcomplications |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aChorea _xcomplications |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHomozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aIntellectual Disability _xcomplications |
| 650 | 0 | 4 |
_aMuscle Hypotonia _xcomplications |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aOptic Atrophy _xcomplications |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 |
_aPhospholipid Transfer Proteins _xgenetics |
| 650 | 0 | 4 | _aSyndrome |
| 650 | 0 | 4 | _aExome Sequencing |
| 700 | 1 | _aRodríguez-García, María Elena | |
| 700 | 1 | _aCamacho, Ana | |
| 700 | 1 | _aMatilla-Dueñas, Antoni | |
| 700 | 1 | _aGarcía-Silva, María Teresa | |
| 700 | 1 | _aQuijada-Fraile, Pilar | |
| 700 | 1 | _aCorral-Juan, Marc | |
| 700 | 1 | _aTejada-Palacios, Pilar | |
| 700 | 1 | _ade Las Heras, Rogelio Simón | |
| 700 | 1 | _aArenas, Joaquín | |
| 700 | 1 | _aMartín, Miguel A | |
| 700 | 1 | _aMartínez-Azorín, Francisco | |
| 773 | 0 |
_tNeurogenetics _gvol. 17 _gno. 4 _gp. 259-263 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1007/s10048-016-0496-y _zAvailable from publisher's website |
| 999 |
_c26463157 _d26463157 |
||