| 000 | 01765 a2200493 4500 | ||
|---|---|---|---|
| 005 | 20250516173436.0 | ||
| 264 | 0 | _c20140616 | |
| 008 | 201406s 0 0 eng d | ||
| 022 | _a1098-1004 | ||
| 024 | 7 |
_a10.1002/humu.22445 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aDelmiro, Aitor | |
| 245 | 0 | 0 |
_aWhole-exome sequencing identifies a variant of the mitochondrial MT-ND1 gene associated with epileptic encephalopathy: west syndrome evolving to Lennox-Gastaut syndrome. _h[electronic resource] |
| 260 |
_bHuman mutation _cDec 2013 |
||
| 300 |
_a1623-7 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAmino Acid Sequence |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aExome |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenetic Association Studies |
| 650 | 0 | 4 | _aHigh-Throughput Nucleotide Sequencing |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 |
_aIntellectual Disability _xgenetics |
| 650 | 0 | 4 | _aLennox Gastaut Syndrome |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aNADH Dehydrogenase _xchemistry |
| 650 | 0 | 4 | _aSequence Alignment |
| 650 | 0 | 4 |
_aSpasms, Infantile _xgenetics |
| 700 | 1 | _aRivera, Henry | |
| 700 | 1 | _aGarcía-Silva, María Teresa | |
| 700 | 1 | _aGarcía-Consuegra, Inés | |
| 700 | 1 | _aMartín-Hernández, Elena | |
| 700 | 1 | _aQuijada-Fraile, Pilar | |
| 700 | 1 | _ade Las Heras, Rogelio Simón | |
| 700 | 1 | _aMoreno-Izquierdo, Ana | |
| 700 | 1 | _aMartín, Miguel Ángel | |
| 700 | 1 | _aArenas, Joaquín | |
| 700 | 1 | _aMartínez-Azorín, Francisco | |
| 773 | 0 |
_tHuman mutation _gvol. 34 _gno. 12 _gp. 1623-7 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/humu.22445 _zAvailable from publisher's website |
| 999 |
_c23152335 _d23152335 |
||