Redefinition of exon 7 in the COL1A1 gene of type I collagen by an intron 8 splice-donor-site mutation in a form of osteogenesis imperfecta: Influence of intron splice order on outcome of splice-site mutation

American Journal of Human Genetics

Volumn 65, Issue 2, 1999, Pages 336-344

  Schwarze, Ulrike ^a   Starman, Barbra J ^a   Byers, Peter H ^a  

^a UNIVERSITY OF WASHINGTON   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 1; DACTINOMYCIN;

ARTICLE; CASE REPORT; COLLAGEN SYNTHESIS; CONTROLLED STUDY; EXON; FEMALE; GENE MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; INTRON; OSTEOGENESIS IMPERFECTA; PRIORITY JOURNAL; RNA SPLICING; SCHOOL CHILD; SEQUENCE ANALYSIS;

EID: 0033365194     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302512     Document Type: Article

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