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

Plectin Missense Mutation p.Leu319Pro in the Pathogenesis of Autosomal Recessive Epidermolysis Bullosa Simplex.

Acta dermato-venereologica - 18 Aug 2020

Tu Wei-Ting, Chen Peng-Chieh, Hou Ping-Chen, Huang Hsin-Yu, Wang Jing-Yu, Chao Sheau-Chiou, Lee Julia Yu-Yun, McGrath John A, Natsuga Ken, Hsu Chao-Kai

Abstract excerpt

is missing (Short communication).

Read the complete abstract on PubMed

Topics

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

Share to Epidermolysis Bullosa Simplex
Share to Mutation
Share to Mutation, Missense

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Plectin

Source

Open in PubMed Open full text

Identifiers

PMID: 32725257
DOI: 10.2340/00015555-3600
PMCID: PMC9207625

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Plectin Missense Mutation p.Leu319Pro in the Pathogenesis of Autosomal Recessive Epidermolysis Bullosa Simplex.PMID 32725257Read ↗

Possible involvement of exon 31 alternative splicing in phenotype and severity of epidermolysis bullosa caused by mutations in PLEC1.Semantic proximity Read ↗

Life-long course and molecular characterization of the original Dutch family with epidermolysis bullosa simplex with muscular dystrophy due to a homozygous novel plectin point mutation.Semantic proximity Read ↗

Plectin Mutations Underlie Epidermolysis Bullosa Simplex in 8% of PatientsSemantic proximity Read ↗

New mutations in the PLEC gene in a Chinese patient with epidermolysis bullosa simplex with muscular dystrophy.Semantic proximity Read ↗

Severe mucous membrane involvement in epidermolysis bullosa simplex with muscular dystrophy due to a novel plectin gene mutation.Semantic proximity Read ↗

Mutation update: The spectra of PLEC sequence variants and related plectinopathies.Semantic proximity Read ↗

A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case reportSemantic proximity Read ↗

Identification of a lethal form of epidermolysis bullosa simplex associated with a homozygous genetic mutation in plectin.Semantic proximity Read ↗

[Epidermolysis bullosa simplex with progressive muscular dystrophy due to plectin deficiency].Semantic proximity Read ↗

Progress in epidermolysis bullosa: the phenotypic spectrum of plectin mutations.Semantic proximity Read ↗

Mutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplexSemantic proximity Read ↗

Epidermolysis bullosa with late-onset muscular dystrophy and plectin deficiency.Semantic proximity Read ↗

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