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

Thyroid peroxidase (TPO) is the key enzyme in the synthesis of thyroid hormones, and the TPO defects are believed to be the most prevalent causes of the inborn errors of thyroid metabolism. We investigated an adopted boy with iodide organification defect, who presented with florid hypothyroidism at...

Deskribapen osoa

Gorde:
Argitaratua izan da:J Clin Invest
Egile Nagusiak: Abramowicz, M J, Targovnik, H M, Varela, V, Cochaux, P, Krawiec, L, Pisarev, M A, Propato, F V, Juvenal, G, Chester, H A, Vassart, G
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: American Society for Clinical Investigation 1992
Gaiak:
Research Article
Sarrera elektronikoa:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC443160/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1401057/
https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI115981
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