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Literature summary for 1.11.1.8 extracted from

  • Avbelj, M.; Tahirovic, H.; Debeljak, M.; Kusekova, M.; Toromanovic, A.; Krzisnik, C.; Battelino, T.
    High prevalence of thyroid peroxidase gene mutations in patients with thyroid dyshormonogenesis (2007), Eur. J. Endocrinol., 156, 511-519.
    View publication on PubMed

Application

Application Comment Organism
medicine identification of TPO gene defects in a cohort of patients with thyroid dyshormonogenesis from Slovenia, Bosnia, and Slovakia. The high percentage of single allele mutations implies possible intronic or regulatory TPO gene mutations or monoallelic expression Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
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Source Tissue

Source Tissue Comment Organism Textmining
additional information genomic DNA is isolated from peripheral blood Homo sapiens
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