Autosomal-dominant Alport syndrome: Natural history of a disease due to COL4A3 or COL4A4 gene
โ Scribed by Pescucci, Chiara; Mari, Francesca; Longo, Ilaria; Vogiatzi, Paraskevi; Caselli, Rossella; Scala, Elisa; Abaterusso, Cataldo; Gusmano, Rosanna; Seri, Marco; Miglietti, Nunzia; Bresin, Elena; Renieri, Alessandra
- Book ID
- 109065415
- Publisher
- Nature Publishing Group
- Year
- 2004
- Tongue
- English
- Weight
- 162 KB
- Volume
- 65
- Category
- Article
- ISSN
- 0085-2538
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๐ SIMILAR VOLUMES
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
## Communicated by Sesgio Otrdenghi Alport's syndrome is characterized clinically by a nonimmune glomerulopathy, often accompanied by sensorineural hearing loss and lens abnormalities, frequently due to mutations in the COL4A5 gene.