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Chronology of renal scarring in males with Alport syndrome

โœ Scribed by Clifford E. Kashtan; Marie-Claire Gubler; Susan Sisson-Ross; Michael Mauer


Publisher
Springer
Year
1998
Tongue
English
Weight
166 KB
Volume
12
Category
Article
ISSN
0931-041X

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Detection of mutations in COL4A5 in pati
โœ Kate E. Plant; Peter M. Green; David Vetrie; Frances A. Flinter ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 322 KB ๐Ÿ‘ 2 views

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