| 000 | 01526 a2200421 4500 | ||
|---|---|---|---|
| 005 | 20250516074418.0 | ||
| 264 | 0 | _c20120716 | |
| 008 | 201207s 0 0 eng d | ||
| 022 | _a1096-7206 | ||
| 024 | 7 |
_a10.1016/j.ymgme.2011.12.022 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aBetsalel, Ofir T | |
| 245 | 0 | 0 |
_aDetection of variants in SLC6A8 and functional analysis of unclassified missense variants. _h[electronic resource] |
| 260 |
_bMolecular genetics and metabolism _cApr 2012 |
||
| 300 |
_a596-601 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aBlotting, Western |
| 650 | 0 | 4 | _aCells, Cultured |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aFibroblasts _xcytology |
| 650 | 0 | 4 | _aHeterozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aX-Linked Intellectual Disability _xdiagnosis |
| 650 | 0 | 4 | _aMutagenesis, Site-Directed |
| 650 | 0 | 4 |
_aMutation, Missense _xgenetics |
| 650 | 0 | 4 |
_aNerve Tissue Proteins _xgenetics |
| 650 | 0 | 4 |
_aPlasma Membrane Neurotransmitter Transport Proteins _xgenetics |
| 650 | 0 | 4 | _aReal-Time Polymerase Chain Reaction |
| 700 | 1 | _aPop, Ana | |
| 700 | 1 | _aRosenberg, Efraim H | |
| 700 | 1 | _aFernandez-Ojeda, Matilde | |
| 700 | 1 | _aJakobs, Cornelis | |
| 700 | 1 | _aSalomons, Gajja S | |
| 773 | 0 |
_tMolecular genetics and metabolism _gvol. 105 _gno. 4 _gp. 596-601 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ymgme.2011.12.022 _zAvailable from publisher's website |
| 999 |
_c21494757 _d21494757 |
||