000 | 01315 a2200397 4500 | ||
---|---|---|---|
005 | 20250515033138.0 | ||
264 | 0 | _c20060928 | |
008 | 200609s 0 0 eng d | ||
022 | _a1769-7212 | ||
024 | 7 |
_a10.1016/j.ejmg.2005.11.002 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aQuenard, Aline | |
245 | 0 | 0 |
_aDeleterious mutations in exon 1 of MECP2 in Rett syndrome. _h[electronic resource] |
260 |
_bEuropean journal of medical genetics _c |
||
300 |
_a313-22 p. _bdigital |
||
500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
650 | 0 | 4 | _aChild, Preschool |
650 | 0 | 4 |
_aExons _xgenetics |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 |
_aMethyl-CpG-Binding Protein 2 _xgenetics |
650 | 0 | 4 | _aMutation |
650 | 0 | 4 |
_aRett Syndrome _xgenetics |
700 | 1 | _aYilmaz, Saliha | |
700 | 1 | _aFontaine, Hervé | |
700 | 1 | _aBienvenu, Thierry | |
700 | 1 | _aMoncla, Anne | |
700 | 1 | _ades Portes, Vincent | |
700 | 1 | _aRivier, François | |
700 | 1 | _aMathieu, Michèle | |
700 | 1 | _aRaux, Grégory | |
700 | 1 | _aJonveaux, Philippe | |
700 | 1 | _aPhilippe, Christophe | |
773 | 0 |
_tEuropean journal of medical genetics _gvol. 49 _gno. 4 _gp. 313-22 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ejmg.2005.11.002 _zAvailable from publisher's website |
999 |
_c16420887 _d16420887 |