Functional Analyses of c.2268dup in Thyroid Peroxidase Gene Associated with Goitrous Congenital Hypothyroidism

The c.2268dup mutation in thyroid peroxidase (TPO) gene was reported to be a founder mutation in Taiwanese patients with dyshormonogenetic congenital hypothyroidism (CH). The functional impact of the mutation is not well documented. In this study, homozygous c.2268dup mutation was detected in two Ma...

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Detalles Bibliográficos
Autores principales: Lee, Ching Chin, Harun, Fatimah, Jalaludin, Muhammad Yazid, Lim, Chor Yin, Ng, Khoon Leong, Mat Junit, Sarni
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3976875/
https://www.ncbi.nlm.nih.gov/pubmed/24745015
http://dx.doi.org/10.1155/2014/370538

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