Open AccessNovel mutations of the thyroid peroxidase gene in patients with permanent congenital hypothyroidism
Author(s) -
Petra Ambrugger,
Iva Stoeva,
Heike Biebermann,
Toni Torresani,
Claudia Leitner,
Annette Grüters
Publication year - 2001
Publication title -
european journal of endocrinology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.897
H-Index - 148
eISSN - 1479-683X
pISSN - 0804-4643
DOI - 10.1530/eje.0.1450019
Subject(s) - exon , thyroid peroxidase , congenital hypothyroidism , compound heterozygosity , mutation , endocrinology , point mutation , organification , medicine , thyroid , gene duplication , genetics , allele , gene , microbiology and biotechnology , biology
It is suggested that iodide organification defects account for 10% of all cases with congenital hypothyroidism (CH). One candidate gene for these defects is the thyroid peroxidase (TPO) gene.
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