A novel frameshift deletion in type IV collagen α5 gene in a juvenile-type alport syndrome patients: An adenine deletion (2940/2943 del A) in exon 34 of COL4A5

Bernard Peissel, Sandro Rossetti, Alessandra Renieri, Lucia Galli, Mario De Marchi, Graziana Battini, Mietta Meroni, Adalberto Sessa, Salvatore Schiavano, Pier Franco Pignatti, Alberto E. Turco

Research output: Contribution to journalArticlepeer-review

Original languageEnglish
Pages (from-to)386-390
Number of pages5
JournalHuman Mutation
Volume3
Issue number4
Publication statusPublished - 1994

Keywords

  • Alport syndrome
  • COL4A5
  • Heteroduplex analysis
  • Mutation detection
  • SSCP

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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