Small frameshift deletions within the COL4A5 gene were identified in three Alport syndrome Italian families by non-isotopic single-strand conformation polymorphism (SSCP) screening: in family RMA, a 7-bp deletion (GGGTGAA) in exon 39; in family DGR, a 4-bp deletion (TGGA) in exon 41; in family MIB, deletion of a G in exon 50. The phenotype was characterized by juvenile-onset renal failure with sensorineural hearing loss in males, and a milder clinical pattern in heterozygous females.

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

CARBONARA, Angelo;PICCOLI, Giuseppe;DE MARCHI, Mario
1993-01-01

Abstract

Small frameshift deletions within the COL4A5 gene were identified in three Alport syndrome Italian families by non-isotopic single-strand conformation polymorphism (SSCP) screening: in family RMA, a 7-bp deletion (GGGTGAA) in exon 39; in family DGR, a 4-bp deletion (TGGA) in exon 41; in family MIB, deletion of a G in exon 50. The phenotype was characterized by juvenile-onset renal failure with sensorineural hearing loss in males, and a milder clinical pattern in heterozygous females.
1993
92
417
420
Renieri A; Seri M; Galli L; Cosci P; Imbasciati E; Massella L; Rizzoni GF; Restagno G; Carbonara AO; Stramignoni E; Basolo B; Piccoli G; De Marchi M
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2318/56707
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