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Article

Screening for mutations of the human thyroid peroxidase gene in patients with congenital hypothyroidism.

Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association - 1 Jan 1996

Grüters A, Köhler B, Wolf A, Söling A, de Vijlder L, Krude H, Biebermann H

Abstract excerpt

While congenital hypothyroidism in 80-90% of the affected individuals is caused by thyroid dysgenesis (athyrosis, ectopy or hypoplasia), hypothyroidism in patients with a thyroid gland of normal position and size can be due to regulatory or enzymatic defects of thyroid hormone biosynthesis. Besid...

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Topics

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Share to TPO gene
Share to Hypothyroidism
Share to Infant, Newborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Iodide Peroxidase

Share to Mutation

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Share to Polymerase Chain Reaction

Share to Polymorphism, Single-Stranded Conformational

Source

Identifiers

PMID: 8981018
DOI: 10.1055/s-0029-1211718

Genes

TPO

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-8981018-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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Screening for mutations of the human thyroid peroxidase gene in patients with congenital hypothyroidism.PMID 8981018Read ↗

Mutation screening of the thyroid peroxidase gene in a cohort of 55 Portuguese patients with congenital hypothyroidismSemantic proximity Read ↗

Thyroid peroxidase gene mutations causing congenital hypothyroidism in three Turkish families.Semantic proximity Read ↗

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

Thyroid Hypoplasia in Congenital Hypothyroidism Associated with Thyroid Peroxidase Mutations.Semantic proximity Read ↗

Genetics of specific phenotypes of congenital hypothyroidism: a population-based approach.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 ↗

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

High prevalence of thyroid peroxidase gene mutations in patients with thyroid dyshormonogenesisSemantic proximity Read ↗

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

Frequency of Mutations in the TPO Gene in Patients with Congenital Hypothyroidism Due to Dyshormonogenesis in Chile.Semantic proximity Read ↗

Congenital hypothyroidism caused by a novel homozygous mutation in the thyroid peroxidase gene.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 ↗

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