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Article

Hereditary renal amyloidosis with a novel variant fibrinogen.

The Journal of clinical investigation - 1 Feb 1994

Uemichi T, Liepnieks J J, Benson M D

Abstract excerpt

Two families with hereditary renal amyloidosis were found to have a novel mutation in the fibrinogen A alpha chain gene. This form of amyloidosis is an autosomal dominant condition characterized by proteinuria, hypertension, and subsequent azotemia. DNAs of patients with amyloidosis were screened...

Topics

Aged
Amyloid
Amyloidosis
Base Sequence
DNA Primers
Female
Fibrinogen
Genetic Variation
Humans
Kidney Diseases
Male
Middle Aged
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pedigree

Point Mutation

Polymorphism, Genetic

Source

Open in PubMed Open full text

Identifiers

PMID: 8113408
DOI: 10.1172/JCI117027
PMCID: PMC293912

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8113408-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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