| 000 | 01431 a2200445 4500 | ||
|---|---|---|---|
| 005 | 20250513110645.0 | ||
| 264 | 0 | _c19970128 | |
| 008 | 199701s 0 0 eng d | ||
| 022 | _a1061-4036 | ||
| 024 | 7 |
_a10.1038/ng0197-70 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aKishino, T | |
| 245 | 0 | 0 |
_aUBE3A/E6-AP mutations cause Angelman syndrome. _h[electronic resource] |
| 260 |
_bNature genetics _cJan 1997 |
||
| 300 |
_a70-3 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. | ||
| 650 | 0 | 4 | _aAmino Acid Sequence |
| 650 | 0 | 4 |
_aAngelman Syndrome _xgenetics |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 |
_aBrain _xembryology |
| 650 | 0 | 4 | _aChromosome Mapping |
| 650 | 0 | 4 | _aChromosomes, Human, Pair 15 |
| 650 | 0 | 4 | _aDNA, Complementary |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aFrameshift Mutation |
| 650 | 0 | 4 | _aGenomic Imprinting |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aLigases _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPolymorphism, Single-Stranded Conformational |
| 650 | 0 | 4 | _aUbiquitin-Protein Ligases |
| 650 | 0 | 4 |
_aUbiquitins _xmetabolism |
| 700 | 1 | _aLalande, M | |
| 700 | 1 | _aWagstaff, J | |
| 773 | 0 |
_tNature genetics _gvol. 15 _gno. 1 _gp. 70-3 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/ng0197-70 _zAvailable from publisher's website |
| 999 |
_c8979615 _d8979615 |
||