Homozygosity for the Asn187 gelsolin mutation in Finnish-type familial amyloidosis is associated with severe renal disease.
Maury
C P
CP
Fourth Department of Medicine, University of Helsinki, Finland.
Kere
J
J
Tolvanen
R
R
de la Chapelle
A
A
D000328:Adult; D000595:Amino Acid Sequence; D000686:Amyloidosis / Q000235:genetics*; D002135:Calcium-Binding Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005387:Finland; D018260:Gelsolin; D006720:Homozygote; D006801:Humans; D007674:Kidney Diseases / Q000235:genetics*; D008840:Microfilament Proteins / Q000235:genetics*; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype
D002135:Calcium-Binding Proteins; D018260:Gelsolin; D008840:Microfilament Proteins