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-Reference-Cited by-同舟云学术

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

Published:2007-08 Issue:2 Volume:67 Page:238-246
ISSN:0300-0664
Container-title:Clinical Endocrinology
language:en
Short-container-title:Clin Endocrinol

Author:

Rivolta Carina M.,Louis-Tisserand Mariana,Varela Viviana,Gruñeiro-Papendieck Laura,Chiesa Ana,González-Sarmiento Rogelio,Targovnik Héctor M.

Publisher

Wiley

Subject

Endocrinology, Diabetes and Metabolism,Endocrinology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2265.2007.02869.x/fullpdf

Reference42 articles.

1. Molecular advances in thyroglobulin disorders

2. Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter.

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

4. Identification of five novel inactivating mutations in the human thyroid peroxidase gene by denaturing gradient gel electrophoresis

5. Congenital hypothyroidism caused by a premature termination signal in exon 10 of the human thyroid peroxidase gene

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