Associated Papers
Mild TPO deficiency characterized by progressive goiter and normal serum TSH level.
Zhang J et al.
Endocrine, 2020
High frequency of mutations in 'dyshormonogenesis genes' in severe congenital hypothyroidism.
Makretskaya N et al.
Plos One, 2018
Mild thyroid peroxidase deficiency caused by TPO mutations with residual activity: Correlation between clinical phenotypes and enzymatic activity.
Narumi S et al.
Endocrine Journal, 2017
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1
Two novel mutations in the human thyroid peroxidase (TPO) gene: genetics and clinical findings in four children.
Simm D et al.
Acta Paediatrica (oslo, Norway : 1992), 2009
Thyroperoxidase gene mutations in congenital goitrous hypothyroidism with total and partial iodide organification defect.
Nascimento AC et al.
Thyroid : Official Journal of the American Thyroid Association, 2003
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