Article
A-2-->G transition at the 3' acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original Stickler syndrome kindred.
American journal of medical genetics - 14 Jun 1996
Williams C J, Ganguly A, Considine E, McCarron S, Prockop D J, Walsh-Vockley C, Michels V V
Abstract excerpt
Hereditary progressive arthro-ophthalmopathy, or "Stickler syndrome," is an autosomal dominant osteochondrodysplasia characterized by a variety of ocular and skeletal anomalies which frequently lead to retinal detachment and precocious osteoarthritis. A variety of mutations in the COL2A1 gene hav...
Topics
- Adolescent
- Aged
- Base Sequence
- Child, Preschool
- Codon, Terminator
- Collagen
- Electrophoresis, Polyacrylamide Gel
- Eye Diseases
- Female
- Humans
- Infant, Newborn
- Joint Diseases
- Male
- Middle Aged
- Molecular Sequence Data