title: Alport syndrome caused by a 5' deletion within the COL4A5 gene.
abstract: Fourteen Italian patients affected with X-linked Alport syndrome were analyzed by Southern blotting, using cDNA probes of the COL4A5 gene. One proband was shown to carry a large deletion (greater than 38 kb) that included the 5' part of the gene.
authors.affiliation: Dipartimento di Biologia Molecolare, Università di Siena, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Renieri
authors.forename: M
authors.initials: M
authors.lastname: Seri
authors.forename: J C
authors.initials: JC
authors.lastname: Myers
authors.forename: T
authors.initials: T
authors.lastname: Pihlajaniemi
authors.forename: A
authors.initials: A
authors.lastname: Sessa
authors.forename: G
authors.initials: G
authors.lastname: Rizzoni
authors.forename: M
authors.initials: M
authors.lastname: De Marchi
mesh_terms: D015139:Blotting, Southern; D002872:Chromosome Deletion; D003094:Collagen / Q000235:genetics*; D015342:DNA Probes / Q000235:genetics; D006801:Humans; D008297:Male; D009394:Nephritis, Hereditary / Q000235:genetics*
chemical_list: D015342:DNA Probes; D003094:Collagen