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

Whole exome sequencing identified a new compound heterozygous PRKN mutation in a Chinese family with early-onset Parkinson's disease.

Bioscience reports - 29 May 2020

Li Tianbai, Kou Daqing, Cui Yanhua, Le Weidong

Abstract excerpt

Early-onset Parkinson's disease (EOPD) is usually caused by genetic variants and patients with EOPD develop symptoms before the age of 50, accounting for 5% Parkinson's disease (PD). Here we present a Chinese Han pedigree with clinical features of EOPD. To determine the diagnosis and pathogenic mutations of this pedigree, whole exome sequencing, Sanger sequencing and real-time quantitative PCR were performed to...

Read the complete abstract on PubMed

Topics

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

Share to Age of Onset
Share to Asian People
Share to Exome Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heredity

Share to Parkinson Disease

Share to Point Mutation

Share to Real-Time Polymerase Chain Reaction

Share to Ubiquitin-Protein Ligases

Source

Open in PubMed Open full text

Identifiers

PMID: 32391545
DOI: 10.1042/BSR20200534
PMCID: PMC7240198

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Whole exome sequencing identified a new compound heterozygous PRKN mutation in a Chinese family with early-onset Parkinson's disease.PMID 32391545Read ↗

Whole-Exome Sequencing Study of Consanguineous Parkinson's Disease Families and Related Phenotypes: Report of Twelve Novel Variants.Semantic proximity Read ↗

Genetic Analysis of Patients With Early-Onset Parkinson’s Disease in Eastern ChinaSemantic proximity Read ↗

Novel compound heterozygous mutations in the PARK2 gene identified in a Chinese pedigree with early-onset Parkinson's disease.Semantic proximity Read ↗

Parkin is the most common causative gene in a cohort of mainland Chinese patients with sporadic early-onset Parkinson's disease.Semantic proximity Read ↗

Whole-exome sequencing in early-onset Parkinson's disease among ethnic Chinese.Semantic proximity Read ↗

A novel FBXO7-R345P mutation in a Chinese family with autosomal recessive parkinsonian-pyramidal syndrome.Semantic proximity Read ↗

Novel ATP13A2 and PINK1 variants identified in Chinese patients with Parkinson's disease by whole-exome sequencing.Semantic proximity Read ↗

Novel compound heterozygous of PARKIN causes early-onset Parkinson's disease.Semantic proximity Read ↗

Long‐Read Sequencing Unravels the Complexity of Structural Variants in PRKN in Two Individuals with Early‐Onset Parkinson's DiseaseSemantic proximity Read ↗

A homozygous parkin p.G284R mutation in a Chinese family with autosomal recessive juvenile parkinsonism.Semantic proximity Read ↗

The mutation spectrum of Parkinson-disease-related genes in early-onset Parkinson's disease in ethnic Chinese.Semantic proximity Read ↗

The role of genetics in Parkinson's disease: a large cohort study in Chinese mainland population.Semantic proximity Read ↗

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