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Classical Ehlers-Danlos Syndrome Caused by a Mutation in Type I Collagen

โœ Scribed by Lieve Nuytinck; Margarida Freund; Lieven Lagae; Gerald E. Pierard; Trinh Hermanns-Le; Anne De Paepe

Book ID
117853238
Publisher
American Society of Human Genetics
Year
2000
Tongue
English
Weight
631 KB
Volume
66
Category
Article
ISSN
0002-9297

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๐Ÿ“œ SIMILAR VOLUMES

Ehlers-Danlos syndrome type VII: a singl
Ehlers-Danlos syndrome type VII: a single base change that causes exon skipping in the type I collagen ฮฑ2(I) chain
โœ A. C. Nicholls; J. Oliver; D. V. Renouf; J. McPheat; A. Palan; F. M. Pope ๐Ÿ“‚ Article ๐Ÿ“… 1991 ๐Ÿ› Springer ๐ŸŒ English โš– 1011 KB

We have examined the procollagens and collagens produced by skin fibroblasts from a patient with Ehlers-Danlos syndrome type VII. The patient was heterozygous for an abnormal alpha 2(I) chain migrating with the approximate size of pN alpha 2(I) chains after pepsin digestion. Peptide mapping suggeste