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

Five novel inactivating mutations in the thyroid peroxidase gene responsible for congenital goiter and iodide organification defect.

Human mutation - 1 Sept 2003

Rivolta Carina M, Esperante Sebastián A, Gruñeiro-Papendieck Laura, Chiesa Ana, Moya Christian M, Domené Sabina, Varela Viviana, Targovnik Héctor M

Abstract excerpt

Thyroid peroxidase (TPO) defects, typically transmitted as autosomal recessive traits, result in hypothyroid goiters with failure to convert iodide into organic iodine. We analyzed the TPO gene in 14 unrelated patients with clinical evidence of iodide organification defects. Seven of the affected individuals harbored mutations in the TPO gene; one was compound heterozygous, the others were simply heterozygous for...

Read the complete abstract on PubMed

Topics

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

Share to Frameshift Mutation
Share to Gene Silencing

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

Share to Genes, Recessive

Share to Goiter

Share to Hypothyroidism

Share to Iodide Peroxidase

Share to Iodides

Share to Thyroid Gland

Source

Identifiers

PMID: 12938097
DOI: 10.1002/humu.9175

Genes

TPO

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

Five novel inactivating mutations in the thyroid peroxidase gene responsible for congenital goiter and iodide organification defect.PMID 12938097Read ↗

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

Analysis of TPO gene in Turkish children with iodide organification defect: identification of a novel mutation.Semantic proximity Read ↗

Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter.Semantic proximity Read ↗

Identification of five novel inactivating mutations in the human thyroid peroxidase gene by denaturing gradient gel electrophoresis.Semantic proximity Read ↗

Genetics and phenomics of hypothyroidism and goiter due to TPO mutations.Semantic proximity Read ↗

Mutation analysis of thyroid peroxidase gene in Chinese patients with total iodide organification defect: identification of five novel mutationsSemantic proximity Read ↗

A 20-basepair duplication in the human thyroid peroxidase gene results in a total iodide organification defect and congenital hypothyroidism.Semantic proximity Read ↗

Two decades of screening for congenital hypothyroidism in The Netherlands: TPO gene mutations in total iodide organification defects (an update).Semantic proximity Read ↗

Two compound heterozygous mutations (c.215delA/c.2422T-->C and c.387delC/c.1159G-->A) in the thyroid peroxidase gene responsible for congenital goitre and iodide organification defect.Semantic proximity Read ↗

Curating the gnomAD database: Report of novel variants in the thyroid peroxidase gene using in silico bioinformatics algorithms and a literature review.Semantic proximity Read ↗

Thyroid Peroxidase Gene Mutations Associated with Thyroid Disorders.Semantic proximity Read ↗

Partial iodide organification defect caused by a novel mutation of the thyroid peroxidase gene in three siblings.Semantic proximity Read ↗

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