000 | 01374 a2200385 4500 | ||
---|---|---|---|
005 | 20250515035541.0 | ||
264 | 0 | _c20061019 | |
008 | 200610s 0 0 eng d | ||
022 | _a0002-9297 | ||
024 | 7 |
_a10.1086/507047 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aNascimento, Rafaella M P | |
245 | 0 | 0 |
_aUBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome. _h[electronic resource] |
260 |
_bAmerican journal of human genetics _cSep 2006 |
||
300 |
_a549-55 p. _bdigital |
||
500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
650 | 0 | 4 | _aAdult |
650 | 0 | 4 | _aAmino Acid Sequence |
650 | 0 | 4 | _aChild, Preschool |
650 | 0 | 4 |
_aCodon, Nonsense _xgenetics |
650 | 0 | 4 |
_aConserved Sequence _xgenetics |
650 | 0 | 4 | _aDNA Mutational Analysis |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aMale |
650 | 0 | 4 |
_aX-Linked Intellectual Disability _xgenetics |
650 | 0 | 4 | _aMiddle Aged |
650 | 0 | 4 | _aMolecular Sequence Data |
650 | 0 | 4 | _aPedigree |
650 | 0 | 4 |
_aUbiquitin-Conjugating Enzymes _xgenetics |
700 | 1 | _aOtto, Paulo A | |
700 | 1 | _ade Brouwer, Arjan P M | |
700 | 1 | _aVianna-Morgante, Angela M | |
773 | 0 |
_tAmerican journal of human genetics _gvol. 79 _gno. 3 _gp. 549-55 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1086/507047 _zAvailable from publisher's website |
999 |
_c16496671 _d16496671 |