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Collagen type VI and related disorders: Bethlem myopathy and Ullrich scleroatonic muscular dystrophy.

AuthorsEnrico Bertini, Guglielmina Pepe
JournalEuropean journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society (Eur J Paediatr Neurol) Vol. 6 Issue 4 Pg. 193-8 ( 2002) ISSN: 1090-3798 [Print] England
PMID12374585 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Review)
Chemical References
  • Collagen Type VI
Topics
  • Alternative Splicing (genetics)
  • Collagen Type VI (biosynthesis, genetics)
  • DNA Mutational Analysis
  • Diagnosis, Differential
  • Gene Expression (genetics)
  • Gene Expression Regulation (genetics)
  • Humans
  • Muscle Tonus (physiology)
  • Muscle, Skeletal (pathology, physiopathology)
  • Muscular Dystrophies (genetics, pathology, physiopathology)
  • Phenotype
  • Point Mutation (genetics)
  • Sclerosis (genetics, pathology)

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