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Article

Novel mutational mechanism in the thyroglobulin gene: imperfect DNA inversion as a cause for hereditary hypothyroidism.

Molecular and cellular endocrinology - 5 Dec 2013

Citterio Cintia E, Rossetti Liliana C, Souchon Pierre F, Morales Cecilia, Thouvard-Viprey Mathilde, Salmon-Musial Anne S, Mauran Pierre L A, Doco-Fenzy Martine, González-Sarmiento Rogelio, Rivolta Carina M, De Brasi Carlos D, Targovnik Héctor M

Abstract excerpt

The objective of this study was to perform genetic analysis in three brothers of Turkish origin born from consanguineus parents and affected by congenital hypothyroidism, goiter and low levels of serum TG. The combination of sequencing of DNA, PCR mapping, quantitative real-time PCR, inverse-PCR...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23933148
DOI: 10.1016/j.mce.2013.07.034

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23933148-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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