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Article

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

The Journal of clinical endocrinology and metabolism - 1 Jul 1994

Bikker H, den Hartog M T, Baas F, Gons M H, Vulsma T, de Vijlder J J

Abstract excerpt

In this study we present the molecular basis of a total iodide organification defect causing severe congenital hypothyroidism. In the thyroid gland of the patient, thyroid peroxidase (TPO) activity and the iodination degree of thyroglobulin were below detection limits, and no TPO messenger ribonucleic acid was detectable by Northern blot analysis. Denaturing gradient gel electrophoretic analysis of the TPO gene...

Topics

Base Composition
Base Sequence
Blotting, Northern
Congenital Hypothyroidism
DNA
Electrophoresis, Polyacrylamide Gel
Humans
Hypothyroidism
Infant
Iodide Peroxidase

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Iodides

Iodine

Male

Molecular Sequence Data

Multigene Family

Mutation

Polymerase Chain Reaction

RNA, Messenger

Source

Identifiers

PMID: 8027236
DOI: 10.1210/jcem.79.1.8027236

Genes

TPO

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8027236-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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A 20-basepair duplication in the human thyroid peroxidase gene results in a total iodide organification defect and congenital hypothyroidism.PMID 8027236Read ↗

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