Associated Papers
Mutational screening of the TPO and DUOX2 genes in Argentinian children with congenital hypothyroidism due to thyroid dyshormonogenesis.
Molina MF et al.
Endocrine, 2022
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1
Congenital hypothyroidism caused by a novel homozygous mutation in the thyroid peroxidase gene.
Fuchs O et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2008
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.
Rivolta CM et al.
Clinical Endocrinology, 2007
Five novel inactivating mutations in the thyroid peroxidase gene responsible for congenital goiter and iodide organification defect.
Rivolta CM et al.
Human Mutation, 2003
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