Small frameshift deletions within the COL4A5 gene in juvenile-onset Alport syndrome
Copyright policy )Small frameshift deletions within the COL4A5 gene in juvenile-onset Alport syndrome
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.
- University of Turin Italy
- National Research Council Italy
- University of Siena Italy
- Ospedale San Luigi Gonzaga Italy
- Ospedale San Giovanni Bosco Italy
Adult, Aged, 80 and over, Male, Polymorphism, Genetic, Adolescent, Base Sequence, Molecular Sequence Data, Nephritis, Hereditary, DNA, Exons, Middle Aged, Polymerase Chain Reaction, Pedigree, Humans, Electrophoresis, Polyacrylamide Gel, Female, Chromosome Deletion, Child, Frameshift Mutation, Aged
Adult, Aged, 80 and over, Male, Polymorphism, Genetic, Adolescent, Base Sequence, Molecular Sequence Data, Nephritis, Hereditary, DNA, Exons, Middle Aged, Polymerase Chain Reaction, Pedigree, Humans, Electrophoresis, Polyacrylamide Gel, Female, Chromosome Deletion, Child, Frameshift Mutation, Aged
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