000 01580 a2200469 4500
005 20250515152935.0
264 0 _c20090528
008 200905s 0 0 eng d
022 _a1098-1004
024 7 _a10.1002/humu.20941
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aClemen, Christoph S
245 0 0 _aHow much mutant protein is needed to cause a protein aggregate myopathy in vivo? Lessons from an exceptional desminopathy.
_h[electronic resource]
260 _bHuman mutation
_cMar 2009
300 _aE490-9 p.
_bdigital
500 _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aBase Sequence
650 0 4 _aBlotting, Western
650 0 4 _aDNA Mutational Analysis
650 0 4 _aDesmin
_xchemistry
650 0 4 _aFamily Health
650 0 4 _aFemale
650 0 4 _aGene Expression
650 0 4 _aHumans
650 0 4 _aMale
650 0 4 _aMicroscopy, Electron
650 0 4 _aMuscle, Skeletal
_xmetabolism
650 0 4 _aMuscular Diseases
_xgenetics
650 0 4 _aMutation
650 0 4 _aPedigree
650 0 4 _aReverse Transcriptase Polymerase Chain Reaction
650 0 4 _aSpectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
700 1 _aFischer, Dirk
700 1 _aReimann, Jens
700 1 _aEichinger, Ludwig
700 1 _aMüller, Clemens R
700 1 _aMüller, Harald D
700 1 _aGoebel, Hans H
700 1 _aSchröder, Rolf
773 0 _tHuman mutation
_gvol. 30
_gno. 3
_gp. E490-9
856 4 0 _uhttps://doi.org/10.1002/humu.20941
_zAvailable from publisher's website
999 _c18555742
_d18555742