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

Novel variant transthyretin gene (Ser50 to Ile) in familial cardiac amyloidosis.

Biochemical and biophysical research communications - 31 Aug 1992

Nishi H, Kimura A, Harada H, Hayashi Y, Nakamura M, Sasazuki T

Abstract excerpt

We detected a point mutation in the transthyretin (TTR) gene in a patient with familial cardiac amyloidosis by using PCR-DCP (DNA conformation polymorphism) analysis that is based on the diversity in electrophoretic mobility of single-stranded DNAs and/or heteroduplex DNAs in PCR products. The PCR products of the transthyretin gene were denatured in the presence of formamide and electrophoresed in a...

Read the complete abstract on PubMed

Topics

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

Share to Base Sequence
Share to Cloning, Molecular
Share to DNA

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

Share to Electrophoresis, Polyacrylamide Gel

Share to Molecular Sequence Data

Share to Mutation

Share to Polymerase Chain Reaction

Share to Polymorphism, Genetic

Source

Identifiers

PMID: 1520336
DOI: 10.1016/s0006-291x(05)81516-5

Genes

TTR

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

Novel variant transthyretin gene (Ser50 to Ile) in familial cardiac amyloidosis.PMID 1520336Read ↗

A novel mutant (transthyretin Ile-50) related to amyloid polyneuropathy. Single-strand conformation polymorphism as a new genetic marker.Semantic proximity Read ↗

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

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

Heart failure caused by a novel amyloidogenic mutation of the transthyretin gene: ATTR Ala45Ser.Semantic proximity Read ↗

Transthyretin Pro55, a variant associated with early-onset, aggressive, diffuse amyloidosis with cardiac and neurologic involvement.Semantic proximity Read ↗

A new Arg54Gly transthyretin gene mutation associated with vitreous amyloidosis in Chinese.Semantic proximity Read ↗

A new mutation (TTR Ala-47) in the transthyretin gene associated with hereditary amyloidosis.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 ↗

A new transthyretin mutation associated with amyloid cardiomyopathy.Semantic proximity Read ↗

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

A new transthyretin variant (Ser 24) associated with familial amyloid polyneuropathy.Semantic proximity Read ↗

Two novel variants of transthyretin identified in Japanese cases with familial amyloidotic polyneuropathy: transthyretin (Glu42 to Gly) and transthyretin (Ser50 to Arg).Semantic proximity Read ↗

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