A novel, homozygous c.1502tG (p.Val501Gly) mutation in the thyroid peroxidase gene in Malaysian sisters with congenital hypothyroidism and multinodular goiter

Congenital hypothyroidism (CH) with multinodular goiter (MNG) is uncommonly seen in children. However, CH associated with goiter is often caused by defective Thyroid peroxidase (TPO) gene. In this study, we screened for mutation(s) in the TPO gene in two siblings with CH and MNG and their healthy fa...

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Veröffentlicht in:	International journal of endocrinology 2013-01
Hauptverfasser:	Lee, Ching Chin, Harun, Fatimah, Jalaludin, Muhammad Yazid, Heh, Choon Han, Othman, Rozana, Junit, Sarni Mat
Format:	Artikel
Sprache:	eng
Schlagworte:	Analysis Gene mutations Genetic aspects Goiter Hypothyroidism
Online-Zugang:	Volltext
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