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Small frameshift deletions within the COL4A5 gene in juvenile-onset Alport syndrome

✍ Scribed by Alessandra Renieri; Marco Seri; Lucia Galli; Pablo Cosci; Enrico Imbasciati; Laura Massella; Gianfranco Rizzoni; Gabriella Restagno; Angelo O. Carbonara; Emanuele Stramignoni; Bruno Basolo; Giuseppe Piccoli; Mario De Marchi

Publisher: Springer
Year: 1993
Tongue: English
Weight: 616 KB
Volume: 92
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf01247348

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About 85% of Alport syndrome is an X-linked semi-dominant condition caused by mutations in the collagen gene, COL4A5. The large size and high GC content of this gene have presented diagnostic laboratories with problems in identifying mutations with greater than about a 50% success rate since the gen