Article
Ehlers Danlos syndrome type VIIB. Incomplete cleavage of abnormal type I procollagen by N-proteinase in vitro results in the formation of copolymers of collagen and partially cleaved pNcollagen that are near circular in cross-section.
The Journal of biological chemistry - 5 May 1992
Watson R B, Wallis G A, Holmes D F, Viljoen D, Byers P H, Kadler K E
Abstract excerpt
We have shown that a child with Ehlers Danlos syndrome (EDS) type VII has a G to A transition at the first nucleotide of intron 6 in one of her COL1A2 alleles. Half of the cDNA clones prepared from the proband's pro alpha 2(I) mRNA lacked exon 6. The type I procollagen secreted by the proband's d...
Topics
- Amino Acid Sequence
- Base Sequence
- Cells, Cultured
- Child
- Collagen
- DNA
- Ehlers-Danlos Syndrome
- Endopeptidases
- Humans
- Hydrolysis
- Microscopy, Electron
- Molecular Sequence Data
- Mutation
- Procollagen
- RNA, Messenger