| 000 | 01748 a2200529 4500 | ||
|---|---|---|---|
| 005 | 20250515080737.0 | ||
| 264 | 0 | _c20080214 | |
| 008 | 200802s 0 0 eng d | ||
| 022 | _a0022-510X | ||
| 024 | 7 |
_a10.1016/j.jns.2007.05.034 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aMuglia, Maria | |
| 245 | 0 | 0 |
_aA novel point mutation in PMP22 gene in an Italian family with hereditary neuropathy with liability to pressure palsies. _h[electronic resource] |
| 260 |
_bJournal of the neurological sciences _cDec 2007 |
||
| 300 |
_a194-7 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aChromosomes, Human, Pair 17 |
| 650 | 0 | 4 |
_aDNA Mutational Analysis _xmethods |
| 650 | 0 | 4 |
_aExons _xgenetics |
| 650 | 0 | 4 | _aFamily Health |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aHereditary Sensory and Motor Neuropathy _xcomplications |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aItaly |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMiddle Aged |
| 650 | 0 | 4 |
_aMyelin Proteins _xgenetics |
| 650 | 0 | 4 |
_aNeural Conduction _xphysiology |
| 650 | 0 | 4 |
_aParalysis _xcomplications |
| 650 | 0 | 4 | _aPoint Mutation |
| 650 | 0 | 4 | _aPressure |
| 700 | 1 | _aPatitucci, Alessandra | |
| 700 | 1 | _aRizzi, Romana | |
| 700 | 1 | _aUngaro, Carmine | |
| 700 | 1 | _aConforti, Francesca Luisa | |
| 700 | 1 | _aGabriele, Anna Lia | |
| 700 | 1 | _aMagariello, Angela | |
| 700 | 1 | _aMazzei, Rosalucia | |
| 700 | 1 | _aMotti, Luisa | |
| 700 | 1 | _aSabadini, Rossella | |
| 700 | 1 | _aSprovieri, Teresa | |
| 700 | 1 | _aMarcello, Norina | |
| 700 | 1 | _aQuattrone, Aldo | |
| 773 | 0 |
_tJournal of the neurological sciences _gvol. 263 _gno. 1-2 _gp. 194-7 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.jns.2007.05.034 _zAvailable from publisher's website |
| 999 |
_c17238346 _d17238346 |
||