Article
A second mutation in the type II procollagen gene (COL2AI) causing stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon.
American journal of human genetics - 1 Jan 1993
Ahmad N N, McDonald-McGinn D M, Zackai E H, Knowlton R G, LaRossa D, DiMascio J, Prockop D J
Abstract excerpt
Genetic linkage analyses suggest that mutations in type II collagen may be responsible for Stickler syndrome, or arthro-ophthalmopathy (AO), in many families. In the present study oligonucleotide primers were developed to amplify and directly sequence eight of the first nine exons of the gene for...
Topics
- Adolescent
- Adult
- Amino Acid Sequence
- Base Sequence
- Codon
- Connective Tissue Diseases
- DNA, Single-Stranded
- Exons
- Eye Diseases
- Female
- Humans
- Infant
- Male
- Molecular Sequence Data
- Mutation
- Pedigree