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Cyclosporin therapy in patients with Alport syndrome

✍ Scribed by Marina Charbit; Marie-Claire Gubler; Michèle Dechaux; Marie-France Gagnadoux; Jean-Pierre Grünfeld; Patrick Niaudet

Publisher
Springer
Year
2007
Tongue
English
Weight
261 KB
Volume
22
Category
Article
ISSN
0931-041X

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Alport syndrome (AS) can be caused by mutations in COL4A5, one of the six type IV collagen genes. For the purposes of confirming diagnoses, carrier screening and correlating genotype to phenotype, we have screened all 51 exons of this gene by SSCP analysis in 153 families with suspected AS. Mutation