Identification of Two Independent <i>COL5A1</i> Variants in Dogs with Ehlers–Danlos Syndrome

Identification of Two Independent <i>COL5A1</i> Variants in Dogs with Ehlers–Danlos Syndrome

The Ehlers&#8722;Danlos syndromes (EDS) are a heterogeneous group of heritable disorders affecting connective tissues. The mutations causing the various forms of EDS in humans are well characterized, but the genetic mutations causing EDS-like clinical pathology in dogs are not known, thus hamper...

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Bibliographic Details
Main Authors: Anina Bauer, John F. Bateman, Shireen R. Lamandé, Eric Hanssen, Shannon G.M. Kirejczyk, Mark Yee, Ali Ramiche, Vidyha Jagannathan, Monika Welle, Tosso Leeb, Fiona L. Bateman
Format: Article
Language:English
Published: MDPI AG 2019-09-01
Series:Genes
Subjects:
Collagen
Cutaneous asthenia
Dog
Canis familiaris
Dermatology
Skin
Whole-genome sequencing
Precision medicine
Rare disease
Genodermatosis
Online Access:https://www.mdpi.com/2073-4425/10/10/731

Internet

https://www.mdpi.com/2073-4425/10/10/731

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