Hereditary renal amyloidosis associated with a mutant fibrinogen alpha-chain.

doi:10.1038/ng0393-252

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Article

Hereditary renal amyloidosis associated with a mutant fibrinogen alpha-chain.

Nature genetics - 1 Mar 1993

Benson M D, Liepnieks J, Uemichi T, Wheeler G, Correa R

Abstract excerpt

Three members of a family who died with renal amyloidosis were found to share a single nucleotide substitution in the fibrinogen alpha-chain gene. The predicted arginine to leucine mutation (Arg554Leu) was proven by amino acid sequence analysis of amyloid fibril protein isolated from postmortem kidney of an affected individual. Direct genomic DNA sequencing and restriction fragment length polymorphism analysis...

Topics

Adult
Amino Acid Sequence
Amyloidosis
Arginine
Base Sequence
DNA
Exons
Female
Fibrinogen
Genetic Variation
Humans
Kidney Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Leucine

Macromolecular Substances

Male

Middle Aged

Molecular Sequence Data

Oligodeoxyribonucleotides

Source

Open in PubMed

Identifiers

PMID: 8097946
DOI: 10.1038/ng0393-252

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8097946-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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