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Identification of Four Novel Mutations in the COL4A5 Gene of Patients with Alport Syndrome

✍ Scribed by Henny H. Lemmink; Cornelis H. Schröder; Han G. Brunner; Marcel R. Nelen; Jing Zhou; Karl Tryggvason; Willy A.G. Haagsma-Schouten; Antony P. Roodvoets; Wolfgang Rascher; Bernard A. van Oost; Hubert J.M. Smeets


Book ID
115611718
Publisher
Elsevier Science
Year
1993
Tongue
English
Weight
363 KB
Volume
17
Category
Article
ISSN
0888-7543

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Alport syndrome (AS) is a hereditary kidney disorder, mainly caused by mutations in the Xchromosomal gene (COL4A5) encoding the type IV collagen α α5 chain. In this study, detection of COL4A5 mutations was performed in 17 Finnish Alport syndrome families. Regions around the 51 previously known exons

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