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.
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Renieri, A., Seri, M., Galli, L. et al. Small frameshift deletions within the COL4A5 gene in juvenile-onset Alport syndrome. Hum Genet 92, 417–420 (1993). https://doi.org/10.1007/BF01247348
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DOI: https://doi.org/10.1007/BF01247348