Alternative splicing of exon 12 of the COL2A1 gene interrupts the triple helix of type-II collagen in the Kniest form of spondyloepiphyseal dysplasia

Journal of Orthopaedic Research

Volumn 14, Issue 5, 1996, Pages 712-721

  Chen, L ^a   Yang, W ^a   Cole, W G ^a  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN; DNA SEQUENCES; GENES; METABOLISM; MOLECULAR STRUCTURE; MUTAGENESIS;

AUTOSOMAL DOMINANT MUTATION; COL2A1 GENE; KNIEST DYSPLASIA; SPONDYLOEPIPHYSEAL DYSPLASIA;

GENETIC ENGINEERING;

COLLAGEN TYPE 2;

AMINO TERMINAL SEQUENCE; ARTICLE; CARBOXY TERMINAL SEQUENCE; CARTILAGE CELL; DNA DETERMINATION; GENE AMPLIFICATION; GENE MUTATION; HUMAN; NUCLEOTIDE SEQUENCE; PEPTIDE MAPPING; PRIORITY JOURNAL; RNA SPLICING; SEQUENCE ANALYSIS; SPONDYLOEPIPHYSEAL DYSPLASIA;

EID: 0030250392     PISSN: 07360266     EISSN: None     Source Type: Journal    
DOI: 10.1002/jor.1100140506     Document Type: Article

References (28)

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