Article
A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutation.
Human genetics - 1 Jun 1992
Richards A J, Ward P N, Narcisi P, Nicholls A C, Lloyd J C, Pope F M
Abstract excerpt
Ehlers-Danlos syndrome type IV, an inherited connective tissue disease, is usually caused by mutations in the gene for type III collagen. Here, we describe a glycine to glutamic acid substitution in a patient with this syndrome. Previous studies had shown that fibroblasts from the patient, his mo...
Topics
- Amino Acid Sequence
- Base Sequence
- Blotting, Southern
- Cells, Cultured
- Cloning, Molecular
- Collagen
- Ehlers-Danlos Syndrome
- Glutamates
- Glutamic Acid
- Glycine
- Humans
- Molecular Sequence Data
- Mosaicism
- Mutation
- Oligonucleotide Probes