| 000 | 01758 a2200565 4500 | ||
|---|---|---|---|
| 005 | 20250515234026.0 | ||
| 264 | 0 | _c20110128 | |
| 008 | 201101s 0 0 eng d | ||
| 022 | _a1468-6244 | ||
| 024 | 7 |
_a10.1136/jmg.2010.077909 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aCrimella, C | |
| 245 | 0 | 0 |
_aThe GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2K. _h[electronic resource] |
| 260 |
_bJournal of medical genetics _cOct 2010 |
||
| 300 |
_a712-6 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aAge of Onset |
| 650 | 0 | 4 |
_aAxons _xmetabolism |
| 650 | 0 | 4 |
_aCharcot-Marie-Tooth Disease _xgenetics |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aElectrophysiology |
| 650 | 0 | 4 | _aGene Deletion |
| 650 | 0 | 4 | _aGenes, Dominant |
| 650 | 0 | 4 |
_aGlutathione Transferase _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aItaly |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 |
_aNerve Tissue Proteins _xchemistry |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aSequence Analysis, DNA |
| 650 | 0 | 4 | _aYoung Adult |
| 700 | 1 | _aTonelli, A | |
| 700 | 1 | _aAiroldi, G | |
| 700 | 1 | _aBaschirotto, C | |
| 700 | 1 | _aD'Angelo, M G | |
| 700 | 1 | _aBonato, S | |
| 700 | 1 | _aLosito, L | |
| 700 | 1 | _aTrabacca, A | |
| 700 | 1 | _aBresolin, N | |
| 700 | 1 | _aBassi, M T | |
| 773 | 0 |
_tJournal of medical genetics _gvol. 47 _gno. 10 _gp. 712-6 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1136/jmg.2010.077909 _zAvailable from publisher's website |
| 999 |
_c20024365 _d20024365 |
||