A heterozygous splice site mutation in COL6A1 leading to an in-frame deletion of the α1(VI) collagen chain in an Italian family affected by Bethlem myopathy

Biochemical and Biophysical Research Communications

Volumn 258, Issue 3, 1999, Pages 802-807

  Pepe, Guglielmina ^a   Giusti, Betti ^a   Bertini, Enrico ^a   Brunelli, Tamara ^a   Saitta, Biagio ^b,c   Comeglio, Paolo ^a   Bolognese, Angela ^c   Merlini, Luciano ^c   Federici, Giorgio ^c   Abbate, Rosanna ^a   Chu, Mon Li ^c,d  

^a UNIVERSITY OF ROME TOR VERGATA   (Italy)

^b UNIVERSITY OF FLORENCE   (Italy)

^c THOMAS JEFFERSON UNIVERSITY   (United States)

^d RIZZOLI ORTHOPAEDIC INSTITUTE   (Italy)

Author keywords

Bethlem myopathy; COL6A1 gene; Collagen type VI; Neuromuscular disease

Indexed keywords

COLLAGEN TYPE 6; CYSTEINE; MICROCRYSTALLINE COLLAGEN;

ADULT; ARTICLE; CASE REPORT; CONTROLLED STUDY; EXON; FEMALE; FIBROBLAST; GENE DELETION; GENE MUTATION; HETEROZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; INTRON; ITALY; MALE; MYOPATHY; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN SECRETION; PROTEIN SYNTHESIS; SCHOOL CHILD;

EID: 0033583788     PISSN: 0006291X     EISSN: None     Source Type: Journal    
DOI: 10.1006/bbrc.1999.0680     Document Type: Article

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