| 000 | 01828 a2200589 4500 | ||
|---|---|---|---|
| 005 | 20250515063018.0 | ||
| 264 | 0 | _c20071207 | |
| 008 | 200712s 0 0 eng d | ||
| 022 | _a0340-5354 | ||
| 024 | 7 |
_a10.1007/s00415-006-0447-x _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aDeschauer, M | |
| 245 | 0 | 0 |
_aAnalysis of spectrum and frequencies of mutations in McArdle disease. Identification of 13 novel mutations. _h[electronic resource] |
| 260 |
_bJournal of neurology _cJun 2007 |
||
| 300 |
_a797-802 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 | _aAged |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aCohort Studies |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aDisease Progression |
| 650 | 0 | 4 | _aEurope |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGene Frequency |
| 650 | 0 | 4 | _aGenetic Heterogeneity |
| 650 | 0 | 4 |
_aGenetic Predisposition to Disease _xethnology |
| 650 | 0 | 4 | _aGenetic Testing |
| 650 | 0 | 4 | _aGenotype |
| 650 | 0 | 4 |
_aGlycogen Phosphorylase, Muscle Form _xgenetics |
| 650 | 0 | 4 |
_aGlycogen Storage Disease Type V _xenzymology |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMiddle Aged |
| 650 | 0 | 4 |
_aMuscle, Skeletal _xenzymology |
| 650 | 0 | 4 |
_aMutation, Missense _xgenetics |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aPolymorphism, Genetic |
| 700 | 1 | _aMorgenroth, A | |
| 700 | 1 | _aJoshi, P R | |
| 700 | 1 | _aGläser, D | |
| 700 | 1 | _aChinnery, P F | |
| 700 | 1 | _aAasly, J | |
| 700 | 1 | _aSchreiber, H | |
| 700 | 1 | _aKnape, M | |
| 700 | 1 | _aZierz, S | |
| 700 | 1 | _aVorgerd, M | |
| 773 | 0 |
_tJournal of neurology _gvol. 254 _gno. 6 _gp. 797-802 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1007/s00415-006-0447-x _zAvailable from publisher's website |
| 999 |
_c16957031 _d16957031 |
||