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

✍ Scribed by Alessandra Renieri; Maria Teresa Bassi; Lucia Galli; Jing Zhou; Marisa Giani; Mario de Marchi; Andrea Ballabio

Publisher: John Wiley and Sons
Year: 1994
Tongue: English
Weight: 290 KB
Volume: 4
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.1380040304

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✦ Synopsis

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.

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