A Novel, Homozygous c.1502T>G (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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Bibliographische Detailangaben
Hauptverfasser: Lee, Ching Chin, Harun, Fatimah, Jalaludin, Muhammad Yazid, Heh, Choon Han, Othman, Rozana, Mat Junit, Sarni
Format: Artigo
Sprache:Inglês
Veröffentlicht: Hindawi Publishing Corporation 2013
Schlagworte:
Clinical Study
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3657457/
https://ncbi.nlm.nih.gov/pubmed/23737781
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2013/987186
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