Article
Abnormal type III collagen produced by an exon-17-skipping mutation of the COL3A1 gene in Ehlers-Danlos syndrome type IV is not incorporated into the extracellular matrix.
The Biochemical journal - 1 Nov 1995
Chiodo A A, Sillence D O, Cole W G, Bateman J F
Abstract excerpt
A novel heterozygous mutation of the COL3A1 gene that encodes the alpha 1(III) chains of type III collagen was identified in a family with the acrogeric form of Ehlers-Danlos syndrome type IV (EDS-IV). Cultured dermal fibroblasts produced normal and shortened alpha 1(III) chains. The triple helix...
Topics
- Adult
- Amino Acid Sequence
- Base Sequence
- Cold Temperature
- Collagen
- DNA, Complementary
- Ehlers-Danlos Syndrome
- Exons
- Extracellular Matrix
- Fibroblasts
- Genome, Human
- Heterozygote
- Hot Temperature
- Humans
- Introns
- Male
- Molecular Sequence Data
- Mutation