title: A novel frameshift deletion in type IV collagen alpha 5 gene in a juvenile-type Alport syndrome patient: an adenine deletion (2940/2943 del A) in exon 34 of COL4A5.
authors.affiliation: Institute of Biological Sciences and Genetics, University of Verona School of Medicine, University Hospital Polyclinic, Italy.
authors.forename: B
authors.initials: B
authors.lastname: Peissel
authors.forename: S
authors.initials: S
authors.lastname: Rossetti
authors.forename: A
authors.initials: A
authors.lastname: Renieri
authors.forename: L
authors.initials: L
authors.lastname: Galli
authors.forename: M
authors.initials: M
authors.lastname: De Marchi
authors.forename: G
authors.initials: G
authors.lastname: Battini
authors.forename: M
authors.initials: M
authors.lastname: Meroni
authors.forename: A
authors.initials: A
authors.lastname: Sessa
authors.forename: S
authors.initials: S
authors.lastname: Schiavano
authors.forename: P F
authors.initials: PF
authors.lastname: Pignatti
mesh_terms: D000227:Adenine Nucleotides / Q000235:genetics*; D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D002648:Child; D003094:Collagen / Q000235:genetics*; D004252:DNA Mutational Analysis; D017931:DNA Primers; D004277:DNA, Single-Stranded / Q000032:analysis; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009394:Nephritis, Hereditary / Q000235:genetics*; D009690:Nucleic Acid Conformation; D009692:Nucleic Acid Heteroduplexes; D010375:Pedigree; D011110:Polymorphism, Genetic
chemical_list: D000227:Adenine Nucleotides; D017931:DNA Primers; D004277:DNA, Single-Stranded; D009692:Nucleic Acid Heteroduplexes; D003094:Collagen