Article
Substitution of aspartate for glycine 1018 in the type III procollagen (COL3A1) gene causes type IV Ehlers-Danlos syndrome: the mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother.
American journal of human genetics - 1 Sept 1992
Kontusaari S, Tromp G, Kuivaniemi H, Stolle C, Pope F M, Prockop D J
Abstract excerpt
A proband with arterial ruptures and skin changes characteristic of the type IV variant of Ehlers-Danlos syndrome was found to have a single-base mutation in the type III procollagen gene, which converted the codon for glycine at amino acid position 1018 to a codon for aspartate. (Amino acid positions are numbered by the standard convention in which the first glycine of the triple-helical domain of an alpha chain...
Topics
- Adult
- Aspartic Acid
- Base Sequence
- Ehlers-Danlos Syndrome
- Female
- Glycine
- Humans
- Molecular Sequence Data
- Mosaicism
- Mutation
- Oligodeoxyribonucleotides