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

Mutation screening of the TPO gene in a cohort of 192 Chinese patients with congenital hypothyroidism.

BMJ open - 12 May 2016

Fu Chunyun, Xie Bobo, Zhang Shujie, Wang Jin, Luo Shiyu, Zheng Haiyang, Su Jiasun, Hu Xuyun, Chen Rongyu, Fan Xin, Luo Jingsi, Gu Xuefan, Chen Shaoke

Abstract excerpt

OBJECTIVES: Defects in the human thyroid peroxidase (TPO) gene are reported to be one of the causes of congenital hypothyroidism (CH) due to dyshormonogenesis. The aim of this study was to examine the TPO mutation spectrum and prevalence among patients with CH in the Guangxi Zhuang Autonomous Region of China and to define the relationships between TPO genotypes and clinical phenotypes. METHODS: Blood samples were...

Read the complete abstract on PubMed

Topics

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

Share to Autoantigens
Share to Computer Simulation

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

Share to Congenital Hypothyroidism

Share to Dual Oxidases

Share to Infant, Newborn

Share to Iodide Peroxidase

Share to Iron-Binding Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 27173810
DOI: 10.1136/bmjopen-2015-010719
PMCID: PMC4874165

Genes

TPO
DUOX2

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

Mutation screening of the TPO gene in a cohort of 192 Chinese patients with congenital hypothyroidism.PMID 27173810Read ↗

Genetic Screening and Functional Analysis of Thyroid Peroxidase Variants in Chinese Patients with Congenital Hypothyroidism.Semantic proximity Read ↗

Screening and Functional Analysis of TPO Gene Mutations in a Cohort of Chinese Patients With Congenital Hypothyroidism.Semantic proximity Read ↗

Analysis of Mutation Spectra of 28 Pathogenic Genes Associated With Congenital Hypothyroidism in the Chinese Han Population.Semantic proximity Read ↗

Next-generation sequencing analysis of DUOX2 in 192 Chinese subclinical congenital hypothyroidism (SCH) and CH patients.Semantic proximity Read ↗

Novel genetic variants in the TPO gene cause congenital hypothyroidism.Semantic proximity Read ↗

Compound heterozygous mutations (p.T561M and c.2422delT) in the TPO gene associated with congenital hypothyroidism.Semantic proximity Read ↗

Mutational screening of the TPO and DUOX2 genes in Argentinian children with congenital hypothyroidism due to thyroid dyshormonogenesis.Semantic proximity Read ↗

The TPO mutation screening and genotype-phenotype analysis in 230 Chinese patients with congenital hypothyroidism.Semantic proximity Read ↗

Congenital goitrous hypothyroidism: mutation analysis in the thyroid peroxidase gene.Semantic proximity Read ↗

Mutation screening of DUOX2 in Chinese patients with congenital hypothyroidism.Semantic proximity Read ↗

Screening and Functional Analysis of TPO Gene Mutations in Patients With Congenital Hypothyroidism.Semantic proximity Read ↗

Mutational screening of the TPO and DUOX2 genes in Argentinian children with congenital hypothyroidism due to thyroid dyshormonogenesis.Semantic proximity Read ↗

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