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

Clinical features of familial amyloid polyneuropathy carrying transthyretin mutations in four Chinese kindreds.

Journal of the peripheral nervous system : JPNS - 1 Mar 2017

Liu Gonglu, Ni Wang, Wang Hongxia, Li Hongfu, Zhang Yue, Wang Ning, Wu Zhiying

Abstract excerpt

Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) is a rare hereditary disorder, characterized by a length-dependent polyneuropathy and dysfunction of various organs. Wide phenotypic heterogeneity makes early diagnosis difficult. In this study, we reviewed the clinical and electrophysiological features of four unrelated Chinese families with genetically confirmed TTR-FAP. Sequence analysis of TTR...

Read the complete abstract on PubMed

Topics

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

Share to Amyloid Neuropathies, Familial
Share to Asian People

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

Share to DNA Mutational Analysis

Share to Family Health

Share to Genetic Predisposition to Disease

Share to Mutation

Share to Neural Conduction

Share to Prealbumin

Source

Identifiers

PMID: 27859927
DOI: 10.1111/jns.12196

Genes

TTR
FAP

Variants

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

Clinical features of familial amyloid polyneuropathy carrying transthyretin mutations in four Chinese kindreds.PMID 27859927Read ↗

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

Clinical Features of Familial Amyloidotic Polyneuropathy With Transthyretin p.Ala117Ser Mutation in Mainland ChinaSemantic proximity Read ↗

Ocular Manifestations in a Chinese Pedigree of Familial Amyloidotic Polyneuropathy Carrying the Transthyretin Mutation c.401A>G (p.Tyr134Cys)Semantic proximity Read ↗

Clinical and genetic features of transthyretin-related familial amyloid polyneuropathy in China.Semantic proximity Read ↗

TTR-related amyloid neuropathy: clinical, electrophysiological and pathological findings in 15 unrelated patients.Semantic proximity Read ↗

Familial amyloid polyneuropathy associated with the transthyretin Cys114 gene in a Japanese kindred.Semantic proximity Read ↗

Transthyretin-Related Familial Amyloidotic PolyneuropathySemantic proximity Read ↗

Transthyretin-related familial amyloid polyneuropathy (ATTR-FAP) in Poland - genetic and clinical presentation.Semantic proximity Read ↗

Ophthalmic manifestations in a Chinese family with familial amyloid polyneuropathy due to a TTR Gly83Arg mutation.Semantic proximity Read ↗

Clinical features of familial amyloidotic polyneuropathy with transthyretin p.Ala117Ser mutation in South Mainland ChinaSemantic proximity Read ↗

Updates on hereditary transthyretin amyloidosis polyneuropathy.Semantic proximity Read ↗

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

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