Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A novel variant of transthyretin (Glu89Lys) associated with familial amyloidotic polyneuropathy.

Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis - 1 Mar 2000

Nakamura M, Hamidi Asl K, Benson M D

Abstract excerpt

We detected a point mutation in the transthyretin (TTR) gene associated with familial amyloidotic polyneuropathy (FAP) in a 57-year old male presenting with sensorimotor polyneuropathy, severe autonomic dysfunction and cardiomyopathy using a non-isotopic RNase cleavage assay (NIRCA). NIRCA suggested that the mutation site was near either amino acid position 58 of mature TTR or the 3' end of exon 3. Direct DNA...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amyloid Neuropathies
Share to FAP gene

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to TTR gene

Share to Glutamine

Share to Lysine

Share to Mutation

Share to Pedigree

Share to Prealbumin

Source

Identifiers

PMID: 10842705
DOI: 10.3109/13506120009146824

Genes

TTR
FAP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel variant of transthyretin (Glu89Lys) associated with familial amyloidotic polyneuropathy.PMID 10842705Read ↗

Identification of a new transthyretin variant (Ile49) in familial amyloidotic polyneuropathy using electrospray ionization mass spectrometry and nonisotopic RNase cleavage assay.Semantic proximity Read ↗

A basic transthyretin variant (Glu61-->Lys) causes familial amyloidotic polyneuropathy: protein and DNA sequencing and PCR-induced mutation restriction analysis.Semantic proximity Read ↗

Detection of three transthyretin gene mutations in familial amyloidotic polyneuropathy by analysis of DNA extracted from formalin-fixed and paraffin-embedded tissues.Semantic proximity Read ↗

Amyloid neuropathy with transthyretin mutations: overview and unique Ala97Ser in Taiwan.Semantic proximity Read ↗

New transthyretin mutation V28M in a Portuguese kindred with amyloid polyneuropathy.Semantic proximity Read ↗

A novel transthyretin mutation associated with familial amyloidotic polyneuropathy.Semantic proximity Read ↗

Dominant cardiac type of familial amyloidotic polyneuropathy associated with a novel transthyretin variant Thr59Arg.Semantic proximity Read ↗

A transthyretin variant (alanine 49) associated with familial amyloidotic polyneuropathy in a French family.Semantic proximity Read ↗

Familial amyloidotic polyneuropathy with late-onset and well-preserved autonomic function: a Japanese kindred with novel mutant transthyretin (Ala97 to Gly).Semantic proximity Read ↗

Genotypic and phenotypic presentation of transthyretin-related familial amyloid polyneuropathy (TTR-FAP) in Turkey.Semantic proximity Read ↗

A low amyloidogenic E61K transthyretin mutation may cause familial amyloid polyneuropathy.Semantic proximity Read ↗

A novel variant mutation of transthyretin Ile73Val-related amyloidotic polyneuropathy in Taiwanese.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.