| 000 | 01493 a2200481 4500 | ||
|---|---|---|---|
| 005 | 20250514024412.0 | ||
| 264 | 0 | _c20020415 | |
| 008 | 200204s 0 0 eng d | ||
| 022 | _a0028-3878 | ||
| 024 | 7 |
_a10.1212/wnl.58.4.593 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aScacheri, P C | |
| 245 | 0 | 0 |
_aNovel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype. _h[electronic resource] |
| 260 |
_bNeurology _cFeb 2002 |
||
| 300 |
_a593-602 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aAged |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 |
_aChromosomes, Human, Pair 21 _xgenetics |
| 650 | 0 | 4 |
_aCollagen Type VI _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aLod Score |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMiddle Aged |
| 650 | 0 | 4 |
_aMuscle, Skeletal _xmetabolism |
| 650 | 0 | 4 |
_aMuscular Diseases _xgenetics |
| 650 | 0 | 4 |
_aMuscular Dystrophies _xgenetics |
| 650 | 0 | 4 |
_aMutation _xgenetics |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 700 | 1 | _aGillanders, E M | |
| 700 | 1 | _aSubramony, S H | |
| 700 | 1 | _aVedanarayanan, V | |
| 700 | 1 | _aCrowe, C A | |
| 700 | 1 | _aThakore, N | |
| 700 | 1 | _aBingler, M | |
| 700 | 1 | _aHoffman, E P | |
| 773 | 0 |
_tNeurology _gvol. 58 _gno. 4 _gp. 593-602 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1212/wnl.58.4.593 _zAvailable from publisher's website |
| 999 |
_c11772902 _d11772902 |
||