A base substitution at a splice site in the COL3A1 gene causes exon skipping and generates abnormal type III procollagen in a patient with Ehlers-Danlos syndrome type IV.
Open Access
- 1 October 1990
- journal article
- research article
- Published by Elsevier in Journal of Biological Chemistry
- Vol. 265 (28) , 17070-17077
- https://doi.org/10.1016/s0021-9258(17)44870-8
Abstract
No abstract availableThis publication has 36 references indexed in Scilit:
- Biochemical Heterogeneity of Type I Collagen Mutations in Osteogenesis ImperfectaAnnals of the New York Academy of Sciences, 1988
- Perinatal lethal osteogenesis imperfecta in transgenic mice bearing an engineered mutant pro-α1(I) collagen geneNature, 1988
- Primer-Directed Enzymatic Amplification of DNA with a Thermostable DNA PolymeraseScience, 1988
- Sequence requirements for splicing of higher eukaryotic nuclear pre-mRNACell, 1986
- Human proα1(I) collagen gene structure reveals evolutionary conservation of a pattern of introns and exonsNature, 1984
- A single-base change at a splice site in a β0-thalassemic gene causes abnormal RNA splicingCell, 1982
- Covalent structure of collagen: amino acid sequence of .alpha.1(III)-CB9 from type III collagen of human liverBiochemistry, 1981
- Covalent structure of collagen: amino acid sequence of .alpha.1(III)-CB5 from type III collagen of human liverBiochemistry, 1980
- Separation of type III collagen from type I collagen and pepsin by differential denaturation and renaturationBiochemical and Biophysical Research Communications, 1978
- The estimation of two collagens from human dermis by interrupted gel electrophoresisBiochemical and Biophysical Research Communications, 1976