Missense mutations in the COL4A5 gene in patients with X-linked Alport syndrome

Hum Mutat. 1998:Suppl 1:S106-9. doi: 10.1002/humu.1380110135.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Amino Acid Sequence
  • Amino Acid Substitution
  • Child
  • Collagen / genetics*
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Female
  • Genetic Linkage
  • Humans
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Mutation, Missense
  • Nephritis, Hereditary / genetics*
  • Nephritis, Hereditary / pathology
  • Point Mutation
  • Polymorphism, Single-Stranded Conformational
  • Sequence Homology, Amino Acid
  • X Chromosome / genetics*

Substances

  • Collagen
  • DNA

Grants and funding