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 have b
✦ LIBER ✦
An A−2→G transition at the 3′ acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original stickler kindred
✍ Scribed by Williams, C.J.; Ganguly, A.; McCarron, S.; Considine, E.; Michels, V.; Prockop, D.J.
- Book ID
- 123014336
- Publisher
- Elsevier Science
- Year
- 1994
- Tongue
- English
- Weight
- 196 KB
- Volume
- 14
- Category
- Article
- ISSN
- 0945-053X
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