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X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.
Renieri A, Bruttini M, Galli L, Zanelli P, Neri T, Rossetti S, Turco A, Heiskari N, Zhou J, Gusmano R, Massella L, Banfi G, Scolari F, Sessa A, Rizzoni G, Tryggvason K, Pignatti PF, Savi M, Ballabio A, De Marchi M. Renieri A, et al. Among authors: rizzoni g. Am J Hum Genet. 1996 Jun;58(6):1192-204. Am J Hum Genet. 1996. PMID: 8651296 Free PMC article.
De-novo COL4A5 gene mutations in Alport's syndrome.
Massella L, Rizzoni G, De Blasis R, Barsotti P, Faraggiana T, Renieri A, Seri M, Galli L, De Marchi M. Massella L, et al. Among authors: rizzoni g. Nephrol Dial Transplant. 1994;9(10):1408-11. Nephrol Dial Transplant. 1994. PMID: 7816253
Major COL4A5 gene rearrangements in patients with juvenile type Alport syndrome.
Renieri A, Galli L, Grillo A, Bruttini M, Neri T, Zanelli P, Rizzoni G, Massella L, Sessa A, Meroni M, Peratoner L, Riegler P, Scolari F, Mileti M, Giani M, Cossu M, Savi M, Ballabio A, De Marchi M. Renieri A, et al. Among authors: rizzoni g. Am J Med Genet. 1995 Nov 20;59(3):380-5. doi: 10.1002/ajmg.1320590320. Am J Med Genet. 1995. PMID: 8599366
Missense mutations in the COL4A5 gene in patients with X-linked Alport syndrome.
Neri TM, Zanelli P, De Palma G, Savi M, Rossetti S, Turco AE, Pignatti GF, Galli L, Bruttini M, Renieri A, Mingarelli R, Trivelli A, Pinciaroli AR, Ragaiolo M, Rizzoni GF, De Marchi M. Neri TM, et al. Among authors: rizzoni gf. Hum Mutat. 1998;Suppl 1:S106-9. doi: 10.1002/humu.1380110135. Hum Mutat. 1998. PMID: 9452056 No abstract available.
192 results