000 01737 a2200505 4500
005 20250514192004.0
264 0 _c20050225
008 200502s 0 0 eng d
022 _a0964-6906
024 7 _a10.1093/hmg/ddh185
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aIlkovski, Biljana
245 0 0 _aEvidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms.
_h[electronic resource]
260 _bHuman molecular genetics
_cAug 2004
300 _a1727-43 p.
_bdigital
500 _aPublication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aActins
_xgenetics
650 0 4 _aBiopolymers
_xgenetics
650 0 4 _aBlotting, Western
650 0 4 _aCells, Cultured
650 0 4 _aDNA Primers
650 0 4 _aHistological Techniques
650 0 4 _aHumans
650 0 4 _aImmunoblotting
650 0 4 _aImmunohistochemistry
650 0 4 _aIsoelectric Focusing
650 0 4 _aModels, Molecular
650 0 4 _aMuscle Proteins
_xmetabolism
650 0 4 _aMutation
_xgenetics
650 0 4 _aMyoblasts
_xmetabolism
650 0 4 _aMyopathies, Nemaline
_xgenetics
650 0 4 _aProtein Folding
650 0 4 _aProtein Isoforms
_xgenetics
650 0 4 _aTransfection
700 1 _aNowak, Kristen J
700 1 _aDomazetovska, Ana
700 1 _aMaxwell, Adam L
700 1 _aClement, Sophie
700 1 _aDavies, Kay E
700 1 _aLaing, Nigel G
700 1 _aNorth, Kathryn N
700 1 _aCooper, Sandra T
773 0 _tHuman molecular genetics
_gvol. 13
_gno. 16
_gp. 1727-43
856 4 0 _uhttps://doi.org/10.1093/hmg/ddh185
_zAvailable from publisher's website
999 _c14905255
_d14905255