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High efficiency of mutation detection in type 1 Stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1

✍ Scribed by Allan J. Richards; Maureen Laidlaw; Joanne Whittaker; Becky Treacy; Harjeet Rai; Philip Bearcroft; David M. Baguley; Arabella Poulson; Alan Ang; John D. Scott; Martin P. Snead

Publisher: John Wiley and Sons
Year: 2006
Tongue: English
Weight: 89 KB
Volume: 27
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.20438

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High efficiency of mutation detection in

High efficiency of mutation detection in type 1 stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1

✍ Allan J. Richards; Maureen Laidlaw; Joanne Whittaker; Becky Treacy; Harjeet Rai; 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 446 KB

## Communicated by Richard Cotton Stickler syndrome is a genetically heterogenous disorder that affects the ocular, skeletal, and auditory systems. To date three genes, COL2A1, COL11A1, and COL11A2, encoding the heterotypic type II/XI collagen fibrils present in vitreous and cartilage have been s