Small frameshift deletions within the COL4A5 gene in juvenile-onset Alport syndrome
- 1 October 1993
- journal article
- Published by Springer Nature in Human Genetics
- Vol. 92 (4) , 417-420
- https://doi.org/10.1007/bf01247348
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.Keywords
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