Article
A mutation in the pro alpha 2(I) gene (COL1A2) for type I procollagen in Ehlers-Danlos syndrome type VII: evidence suggesting that skipping of exon 6 in RNA splicing may be a common cause of the phenotype.
American journal of human genetics - 1 Feb 1991
Vasan N S, Kuivaniemi H, Vogel B E, Minor R R, Wootton J A, Tromp G, Weksberg R, Prockop D J
Abstract excerpt
Fibroblasts from a proband with Ehlers-Danlos syndrome type VII synthesized approximately equal amounts of normal and shortened pro alpha 2(I) chains of type I procollagen. Nuclease S1 probe protection experiments with mRNA demonstrated that the pro alpha 2(I) chains were shortened because of a deletion of most or all of the 54 nucleotides in exon 6, the exon that contains codons for the cleavage site for...
Topics
- Alleles
- Base Sequence
- Child
- DNA
- Ehlers-Danlos Syndrome
- Electrophoresis
- Exons
- Female
- Humans
- Introns
- Molecular Sequence Data