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Alport syndrome and leiomyomatosis: the first deletion extending beyondCOL4A6intron 2

✍ Scribed by Vera Uliana; Elena Marcocci; Mafalda Mucciolo; Ilaria Meloni; Claudia Izzi; Carlo Manno; Mirella Bruttini; Francesca Mari; Francesco Scolari; Alessandra Renieri; Leonardo Salviati

Publisher: Springer
Year: 2010
Tongue: English
Weight: 466 KB
Volume: 26
Category: Article
ISSN: 0931-041X
DOI: 10.1007/s00467-010-1693-9

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Deletion spanning the 5′ ends of both th

Deletion spanning the 5′ ends of both the COL4A5 and COL4A6 genes in a patient with Alport's syndrome and leiomyomatosis

✍ Alessandra Renieri; Maria Teresa Bassi; Lucia Galli; Jing Zhou; Marisa Giani; Ma 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 290 KB

## 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.