Recurrent transition at a CG dinucleotide in exon 12 of COL2A1 produces kniest dysplasia with abnormal RNA splicing by chondrocytes and lymphoblasts and interruption of the triple helix of type II collagen.
Chen
L
L
Centre for the Study of Heritable Connective Tissue Diseases Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada.
Yang
W
W
Cole
W G
WG
D017398:Alternative Splicing; D000595:Amino Acid Sequence; D001483:Base Sequence; D002356:Cartilage / Q000378:metabolism; D002648:Child; D003094:Collagen / Q000096:biosynthesis* / Q000737:chemistry / Q000235:genetics*; D015226:Dinucleoside Phosphates; D005091:Exons; D006801:Humans; D008214:Lymphocytes / Q000378:metabolism; D008969:Molecular Sequence Data; D010009:Osteochondrodysplasias / Q000235:genetics*; D017354:Point Mutation; D017433:Protein Structure, Secondary
D003094:Collagen; D015226:Dinucleoside Phosphates; C015772:CpG dinucleotide