Homozygosity for the Asn187 gelsolin mutation in Finnish-type familial amyloidosis is associated with severe renal disease

Genomics. 1992 Jul;13(3):902-3. doi: 10.1016/0888-7543(92)90183-s.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Amino Acid Sequence
  • Amyloidosis / genetics*
  • Calcium-Binding Proteins / genetics*
  • DNA Mutational Analysis
  • Female
  • Finland
  • Gelsolin
  • Homozygote
  • Humans
  • Kidney Diseases / genetics*
  • Microfilament Proteins / genetics*
  • Middle Aged
  • Pedigree
  • Phenotype

Substances

  • Calcium-Binding Proteins
  • Gelsolin
  • Microfilament Proteins