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

Identification of a novel transthyretin Thr59Lys/Arg104His. A case of compound heterozygosity in a Chinese patient diagnosed with familial transthyretin amyloidosis.

Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis - 1 Jun 2002

Lim Amareth, Prokaeva Tatiana, Connor Lawreen H, Falk Rodney H, Skinner Martha, Costello Catherine E

Abstract excerpt

Transthyretin (TTR) is a 127-amino acid residue protein synthesized mainly in the liver and in several minor sites, including the choroid plexus and the eye. In plasma, TTR circulates as a homotetramer and transports the hormone thyroxine and the retinol-binding protein-vitamin A complex. It is h...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Substitution
Share to Amyloidosis, Familial

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Asian People

Share to DNA Mutational Analysis

Share to DNA Primers

Share to Isoelectric Focusing

Share to Prealbumin

Share to Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization

Source

Identifiers

PMID: 12440486

Genes

TTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12440486-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of a novel transthyretin Thr59Lys/Arg104His. A case of compound heterozygosity in a Chinese patient diagnosed with familial transthyretin amyloidosis.PMID 12440486Read ↗

A novel compound heterozygote (FAP ATTR Arg104His/ATTR Val30Met) with high serum transthyretin (TTR) and retinol binding protein (RBP) levels.Semantic proximity Read ↗

Identification of transthyretin variants by sequential proteomic and genomic analysis.Semantic proximity Read ↗

Transthyretin mutagenesis: impact on amyloidogenesis and disease.Semantic proximity Read ↗

Identification of a novel TTR Gly67Glu mutant and the first case series of familial transthyretin amyloidosis in Hong Kong Chinese.Semantic proximity Read ↗

Transthyretin-related hereditary amyloidosis in a Chinese family with TTR Y114C mutation.Semantic proximity Read ↗

[Application to transthyretin analysis].Semantic proximity Read ↗

Pathological, biochemical, and biophysical characteristics of the transthyretin variant Y114H (p.Y134H) explain its very mild clinical phenotype.Semantic proximity Read ↗

Characterization of Transthyretin Mutation G47V Associated with Hereditary Cardiac Amyloidosis.Semantic proximity Read ↗

Characterization of transthyretin mutants from serum using immunoprecipitation, HPLC/electrospray ionization and matrix-assisted laser desorption/ionization mass spectrometry.Semantic proximity Read ↗

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

Transthyretin mutations in hyperthyroxinemia and amyloid diseases.Semantic proximity Read ↗

Proteomic characterization of amyloid deposits in transthyretin amyloidosis associated with various mutations.Semantic proximity Read ↗

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