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

Annals of the New York Academy of Sciences

Volumn 785, Issue , 1996, Pages 234-237

  Chen, Luping ^a   Yang, Winnie ^a   Cole, William G ^a  

^a HOSPITAL FOR SICK CHILDREN RESEARCH INSTITUTE   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 2; DINUCLEOTIDE;

CARTILAGE CELL; CASE REPORT; CONFERENCE PAPER; CONTROLLED STUDY; DNA DETERMINATION; DNA SEQUENCE; EXON; GENE MUTATION; HUMAN; HUMAN CELL; KNIEST DYSPLASIA; LYMPHOBLAST; POLYMERASE CHAIN REACTION; RNA SPLICING; SPONDYLOEPIPHYSEAL DYSPLASIA; TRIPLE HELIX;

EID: 0029784998     PISSN: 00778923     EISSN: None     Source Type: Book Series    
DOI: 10.1111/j.1749-6632.1996.tb56270.x     Document Type: Article

References (2)

1. SPRANGER, J., A. WINTERPACHT & B. ZABEL. 1994. Eur. J. Pediatr. 153: 56-65.
2. BOGAERT, R., D. WILKIN, W. WILCOX, R. LACHMAN, D. L. RIMOIN, D. COHN & D. EYRE. 1994. Am. J. Hum. Genet. 55: 1128-1136.