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Different mutations in the COL4A5 collagen gene in two patients with different features of Alport syndrome

✍ Scribed by Smeets, Hubert JM; Melenhorst, Jos J; Lemmink, Henny H; Schröder, Cock H; Nelen, Marcel R; Zhou, Jing; Hostikka, Sirkka L; Tryggvason, Karl; Ropers, Hans-Hilger; Jansweijer, Maaike CE


Book ID
109882118
Publisher
Nature Publishing Group
Year
1992
Tongue
English
Weight
751 KB
Volume
42
Category
Article
ISSN
0085-2538

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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