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

Hum Mutat. 1994;3(4):386-90. doi: 10.1002/humu.1380030410.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenine Nucleotides / genetics*
  • Adult
  • Amino Acid Sequence
  • Base Sequence
  • Child
  • Collagen / genetics*
  • DNA Mutational Analysis
  • DNA Primers
  • DNA, Single-Stranded / analysis
  • Female
  • Frameshift Mutation*
  • Humans
  • Male
  • Molecular Sequence Data
  • Nephritis, Hereditary / genetics*
  • Nucleic Acid Conformation
  • Nucleic Acid Heteroduplexes
  • Pedigree
  • Polymorphism, Genetic

Substances

  • Adenine Nucleotides
  • DNA Primers
  • DNA, Single-Stranded
  • Nucleic Acid Heteroduplexes
  • Collagen

Associated data

  • GENBANK/S71779