Unequal homologous crossing over resulting in duplication of 36 base pairs within exon 47 of the COL4A5 gene in a family with Alport syndrome

Hum Mutat. 1996;8(3):265-9. doi: 10.1002/(SICI)1098-1004(1996)8:3<265::AID-HUMU11>3.0.CO;2-0.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Amino Acid Sequence
  • Base Composition
  • Base Sequence
  • Child, Preschool
  • Collagen / biosynthesis
  • Collagen / genetics*
  • Crossing Over, Genetic*
  • DNA Primers
  • Exons
  • Female
  • Humans
  • Introns
  • Middle Aged
  • Molecular Sequence Data
  • Nephritis, Hereditary / genetics*
  • Polymerase Chain Reaction
  • Polymorphism, Single-Stranded Conformational
  • Repetitive Sequences, Nucleic Acid*

Substances

  • DNA Primers
  • Collagen