Article
COL5A1 exon 14 splice acceptor mutation causes a functional null allele, haploinsufficiency of alpha 1(V) and abnormal heterotypic interstitial fibrils in Ehlers-Danlos syndrome II.
The Journal of biological chemistry - 20 Apr 2001
Bouma P, Cabral W A, Cole W G, Marini J C
Abstract excerpt
We studied four affected individuals from a family of three generations with Ehlers-Danlos Syndrome II. Type V collagen transcripts of affected individuals were screened by reverse transcriptase-polymerase chain reaction. Amplification of the exon 9-28 region of alpha1(V) yielded normal and larger products from the proband. Sequencing of cDNA revealed a 100-base pair insertion from the 3'-end of intron 13 between...
Topics
- Adolescent
- Adult
- Alleles
- Alternative Splicing
- Cells, Cultured
- Collagen
- Ehlers-Danlos Syndrome
- Exons
- Female
- Fibroblasts
- Frameshift Mutation
- Humans
- Male
- Middle Aged
- Mutation, Missense