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    • Clinical and functional effects of a deletion in a COOH-terminal lumenal loop of the skeletal muscle ryanodine receptor.
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Clinical and functional effects of a deletion in a COOH-terminal lumenal loop of the skeletal muscle ryanodine receptor.

Clinical and functional effects of a deletion in a COOH-terminal lumenal loop of the skeletal muscle ryanodine receptor. Hum Mol Genet. 2003 Feb 15; 12(4):379-88.

View in: PubMed

subject areas
  • Adolescent
  • Adult
  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Blotting, Western
  • Calcium
  • Calcium Channels
  • Cell Line
  • Cell Membrane
  • Codon
  • Cytoplasm
  • DNA Mutational Analysis
  • Electrophoresis, Polyacrylamide Gel
  • Endopeptidase K
  • Family Health
  • Female
  • Gene Deletion
  • Heterozygote
  • Humans
  • Immunoblotting
  • Ions
  • Models, Biological
  • Molecular Sequence Data
  • Muscle, Skeletal
  • Mutation
  • Myopathy, Central Core
  • Peptides
  • Protein Structure, Tertiary
  • Rabbits
  • Recombinant Fusion Proteins
  • Ryanodine
  • Ryanodine Receptor Calcium Release Channel
  • Sarcoplasmic Reticulum
  • Sequence Homology, Amino Acid
  • Time Factors

authors with profiles
  • Naohiro Yamaguchi