A Novel Missense Mutation in the Thyroid Peroxidase Gene, R175Q, Resulting in Insufficient Cell Surface Enzyme in Two Siblings

Thyroid peroxidase (TPO) abnormality is one of the causes of congenital hypothyroidism. Two missense mutations were found as a compound heterozygous mutation in two siblings with congenital goitrous hypothyroidism. One of these mutations, G614A (R175Q), was a novel mutation. Characterization of the...

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Detalles Bibliográficos
Autores principales: Kotani, Tomio, Umeki, Kazumi, Kawano, Jun-ichi, Suganuma, Tatsuo, Yamamoto, Ikuo, Aratake, Yatsuki, Ichiba, Yozo, Furujo, Mahoko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society for Pediatric Endocrinology 2004
Materias:
Original
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4004912/
https://www.ncbi.nlm.nih.gov/pubmed/24790296
http://dx.doi.org/10.1297/cpe.13.37

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4004912/
https://www.ncbi.nlm.nih.gov/pubmed/24790296
http://dx.doi.org/10.1297/cpe.13.37

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