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Clinical Variability of Stickler Syndrome: Role of Exon 2 of the Collagen COL2A1 Gene

โœ Scribed by Larry A Donoso; Albert O Edwards; Arcilee T Frost; Robert Ritter III; Nina Ahmad; Tamara Vrabec; Jerry Rogers; David Meyer; Scott Parma


Book ID
117221722
Publisher
Elsevier Science
Year
2003
Tongue
English
Weight
471 KB
Volume
48
Category
Article
ISSN
0039-6257

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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