Substitution of A1498D in noncollagen domain of a5(IV) collagen chain associated with adult-onset X-linked Alport syndrome

Hum Mutat. 1996;7(2):149-50. doi: 10.1002/(SICI)1098-1004(1996)7:2<149::AID-HUMU9>3.0.CO;2-7.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Collagen / chemistry
  • Collagen / genetics*
  • DNA Primers
  • Female
  • Genetic Linkage
  • Humans
  • Molecular Sequence Data
  • Nephritis, Hereditary / genetics*
  • Point Mutation*
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length
  • Polymorphism, Single-Stranded Conformational
  • X Chromosome

Substances

  • DNA Primers
  • Collagen