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.
Original language | English |
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Pages (from-to) | 417-420 |
Number of pages | 4 |
Journal | Human Genetics |
Volume | 92 |
Issue number | 4 |
DOIs | |
Publication status | Published - Oct 1993 |
ASJC Scopus subject areas
- Genetics(clinical)
- Genetics