000 | 01798 a2200565 4500 | ||
---|---|---|---|
005 | 20250515090101.0 | ||
264 | 0 | _c20071217 | |
008 | 200712s 0 0 eng d | ||
022 | _a1531-8249 | ||
024 | 7 |
_a10.1002/ana.21213 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aBaker, Naomi L | |
245 | 0 | 0 |
_aMolecular consequences of dominant Bethlem myopathy collagen VI mutations. _h[electronic resource] |
260 |
_bAnnals of neurology _cOct 2007 |
||
300 |
_a390-405 p. _bdigital |
||
500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
650 | 0 | 4 | _aAdult |
650 | 0 | 4 |
_aCollagen Diseases _xgenetics |
650 | 0 | 4 |
_aCollagen Type VI _xgenetics |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 |
_aGenes, Dominant _xgenetics |
650 | 0 | 4 |
_aGenetic Predisposition to Disease _xgenetics |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aMale |
650 | 0 | 4 | _aMiddle Aged |
650 | 0 | 4 |
_aMuscular Diseases _xgenetics |
650 | 0 | 4 | _aMutation |
650 | 0 | 4 |
_aPolymorphism, Single Nucleotide _xgenetics |
700 | 1 | _aMörgelin, Matthias | |
700 | 1 | _aPace, Rishika A | |
700 | 1 | _aPeat, Rachel A | |
700 | 1 | _aAdams, Naomi E | |
700 | 1 | _aGardner, R J McKinlay | |
700 | 1 | _aRowland, Lewis P | |
700 | 1 | _aMiller, Geoffrey | |
700 | 1 | _aDe Jonghe, Peter | |
700 | 1 | _aCeulemans, Berten | |
700 | 1 | _aHannibal, Mark C | |
700 | 1 | _aEdwards, Matthew | |
700 | 1 | _aThompson, Elizabeth M | |
700 | 1 | _aJacobson, Richard | |
700 | 1 | _aQuinlivan, Ros C M | |
700 | 1 | _aAftimos, Salim | |
700 | 1 | _aKornberg, Andrew J | |
700 | 1 | _aNorth, Kathryn N | |
700 | 1 | _aBateman, John F | |
700 | 1 | _aLamandé, Shireen R | |
773 | 0 |
_tAnnals of neurology _gvol. 62 _gno. 4 _gp. 390-405 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1002/ana.21213 _zAvailable from publisher's website |
999 |
_c17410492 _d17410492 |