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TitleA novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy.
Journal, issue, pagesPLoS ONE, Vol. 12, Page e0186642-e0186642, Year 2017
Publish dateNov 21, 2016 (structure data deposition date)
AuthorsRossi, D. / Palmio, J. / Evila, A. / Galli, L. / Barone, V. / Caldwell, T.A. / Policke, R.A. / Aldkheil, E. / Berndsen, C.E. / Wright, N.T. ...Rossi, D. / Palmio, J. / Evila, A. / Galli, L. / Barone, V. / Caldwell, T.A. / Policke, R.A. / Aldkheil, E. / Berndsen, C.E. / Wright, N.T. / Malfatti, E. / Brochier, G. / Pierantozzi, E. / Jordanova, A. / Guergueltcheva, V. / Romero, N.B. / Hackman, P. / Eymard, B. / Udd, B. / Sorrentino, V.
External linksPLoS ONE / PubMed:29073160
MethodsX-ray diffraction
Resolution1.177 Å
Structure data

PDB-5tzm:
59th Ig domain of human obscurin (OBSCN Ig59)
Method: X-RAY DIFFRACTION / Resolution: 1.177 Å

Chemicals

ChemComp-HOH:
WATER

Source
  • homo sapiens (human)
KeywordsSTRUCTURAL PROTEIN / Ig-like fold / cytoskeleton / muscle / muscular dystrophy / TRANSFERASE

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