| 000 | 01042 a2200361 4500 | ||
|---|---|---|---|
| 005 | 20250515050318.0 | ||
| 264 | 0 | _c20061207 | |
| 008 | 200612s 0 0 eng d | ||
| 022 | _a0340-6717 | ||
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aConforti, F L | |
| 245 | 0 | 0 |
_aGene symbol: MECP2. Disease: Rett syndrome. _h[electronic resource] |
| 260 |
_bHuman genetics _cJul 2006 |
||
| 300 |
_a676 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article | ||
| 650 | 0 | 4 |
_aAmino Acid Substitution _xgenetics |
| 650 | 0 | 4 |
_aAsparagine _xgenetics |
| 650 | 0 | 4 | _aCodon, Nonsense |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aMethyl-CpG-Binding Protein 2 _xgenetics |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 |
_aRett Syndrome _xgenetics |
| 700 | 1 | _aMazzei, R | |
| 700 | 1 | _aSprovieri, T | |
| 700 | 1 | _aUngaro, C | |
| 700 | 1 | _aPatitucci, A | |
| 700 | 1 | _aMagariello, A | |
| 700 | 1 | _aGabriele, A L | |
| 700 | 1 | _aBravaccio, C | |
| 700 | 1 | _aMuglia, M | |
| 700 | 1 | _aQuattrone, A | |
| 773 | 0 |
_tHuman genetics _gvol. 119 _gno. 6 _gp. 676 |
|
| 999 |
_c16699353 _d16699353 |
||