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

Most recent common ancestor of TTR Val30Met mutation in Italian population and its potential role in genotype-phenotype correlation.

Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis - 1 Jan 2015

Iorio Andrea, De Angelis Flavio, Di Girolamo Marco, Luigetti Marco, Pradotto Luca, Mauro Alessandro, Manfellotto Dario, Fuciarelli Maria, Polimanti Renato

Abstract excerpt

INTRODUCTION: Transthyretin (TTR)-related amyloidosis is characterized by autosomal transmission of amyloidogenic mutated TTR. Val30Met is one of the most common amyloidogenic TTR mutations, showing a worldwide distribution with phenotypic heterogeneity among human populations. Multiple founder mutations for Val30Met foci have been hypothesized and the different origins may explain the phenotypic variability. The...

Read the complete abstract on PubMed

Topics

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

Share to Amyloidosis
Share to Genetic Association Studies

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

Share to Genetic Variation

Share to Haplotypes

Share to Mutation

Share to Portugal

Share to Prealbumin

Share to Sweden

Source

Identifiers

PMID: 25510352
DOI: 10.3109/13506129.2014.994597

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

Most recent common ancestor of TTR Val30Met mutation in Italian population and its potential role in genotype-phenotype correlation.PMID 25510352Read ↗

Genetic and Clinical Spectrum of Hereditary Transthyretin Amyloidosis in Brazil.Semantic proximity Read ↗

Origin of sporadic late-onset hereditary ATTR Val30Met amyloidosis in JapanSemantic proximity Read ↗

Haplotypes and DNA sequence variation within and surrounding the transthyretin gene: genotype-phenotype correlations in familial amyloid polyneuropathy (V30M) in Portugal and Sweden.Semantic proximity Read ↗

Familial amyloidotic polyneuropathy type 1 in Brazil is associated with the transthyretin Val30Met variant.Semantic proximity Read ↗

New data on the genetic profile and penetrance of hereditary Val30Met transthyretin amyloidosis in Sweden.Semantic proximity Read ↗

Common origin of the Val30Met mutation responsible for the amyloidogenic transthyretin type of familial amyloidotic polyneuropathy.Semantic proximity Read ↗

The genetic heterogeneity of hereditary transthyretin amyloidosis in a sample of the Brazilian population.Semantic proximity Read ↗

A multicentric study of the disease risks and first manifestations in hereditary transthyretin amyloidosis (ATTRv): insights for an earlier diagnosisSemantic proximity Read ↗

Haplotype analysis of common transthyretin mutations.Semantic proximity Read ↗

Heterogeneity of penetrance in familial amyloid polyneuropathy, ATTR Val30Met, in the Swedish population.Semantic proximity Read ↗

A possible role for miRNA silencing in disease phenotype variation in Swedish transthyretin V30M carriers.Semantic proximity Read ↗

Frequency of the transthyretin Val30Met mutation in the northern Swedish populationSemantic proximity Read ↗

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