Masked confirmation of linkage between type 1 congenital vitreous anomaly and COL 2A1 in Stickler syndrome
β Scribed by Martin P. Snead; John R. W. Yates; F. Michael Pope; I. Karen Temple; John D. Scott
- Book ID
- 112289204
- Publisher
- Springer-Verlag
- Year
- 1996
- Tongue
- English
- Weight
- 180 KB
- Volume
- 234
- Category
- Article
- ISSN
- 0065-6100
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π SIMILAR VOLUMES
Stickler syndrome is a dominantly inherited disorder affecting the fibrillar type II/XI collagen molecules expressed in vitreous and cartilage. Mutations have been found in COL2A1, COL11A1 and COL11A2. It has a highly variable phenotype that can include midline clefting, hearing loss, premature oste
We describe a novel type of mutation in the COL2A1 gene in a family with Stickler syndrome, namely a deletion of an entire COL2A1 allele. Until now, almost all COL2A1 mutations found in this syndrome are nucleotide substitutions, small deletions, or insertions, resulting in premature translation ter