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