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Masked confirmation of linkage between type 1 congenital vitreous anomaly and COL 2A1 in Stickler syndrome

✍ 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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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