| 000 | 01654 a2200517 4500 | ||
|---|---|---|---|
| 005 | 20250515060752.0 | ||
| 264 | 0 | _c20070606 | |
| 008 | 200706s 0 0 eng d | ||
| 022 | _a1061-4036 | ||
| 024 | 7 |
_a10.1038/ng1992 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aRisheg, Hiba | |
| 245 | 0 | 0 |
_aA recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. _h[electronic resource] |
| 260 |
_bNature genetics _cApr 2007 |
||
| 300 |
_a451-3 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aAmino Acid Substitution _xgenetics |
| 650 | 0 | 4 |
_aArginine _xgenetics |
| 650 | 0 | 4 | _aFamily |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aGenetic Diseases, X-Linked _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aIntellectual Disability _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMediator Complex |
| 650 | 0 | 4 |
_aMuscle Hypotonia _xgenetics |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 |
_aReceptors, Thyroid Hormone _xgenetics |
| 650 | 0 | 4 | _aSyndrome |
| 650 | 0 | 4 |
_aTryptophan _xgenetics |
| 700 | 1 | _aGraham, John M | |
| 700 | 1 | _aClark, Robin D | |
| 700 | 1 | _aRogers, R Curtis | |
| 700 | 1 | _aOpitz, John M | |
| 700 | 1 | _aMoeschler, John B | |
| 700 | 1 | _aPeiffer, Andreas P | |
| 700 | 1 | _aMay, Melanie | |
| 700 | 1 | _aJoseph, Sumy M | |
| 700 | 1 | _aJones, Julie R | |
| 700 | 1 | _aStevenson, Roger E | |
| 700 | 1 | _aSchwartz, Charles E | |
| 700 | 1 | _aFriez, Michael J | |
| 773 | 0 |
_tNature genetics _gvol. 39 _gno. 4 _gp. 451-3 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/ng1992 _zAvailable from publisher's website |
| 999 |
_c16891571 _d16891571 |
||