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Journal article

Thyroid peroxidase: evidence for disease gene exclusion in Pendred's syndrome.

Abstract:

OBJECTIVE: Pendred's syndrome is an association between congenital neurosensory deafness and goitre with abnormal discharge of iodide following perchlorate challenge, indicating a defect of iodide organification. Although Pendred's syndrome may cause up to 7.5% of all cases of congenital deafness, the molecular basis of the association between the hearing loss and the thyroid organification defect remains unknown. We chose to investigate the role of the thyroid peroxidase (TPO) gene as the g...

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Publication status:
Published

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Journal:
Clinical endocrinology
Volume:
44
Issue:
4
Pages:
441-446
Publication date:
1996-04-01
DOI:
EISSN:
1365-2265
ISSN:
0300-0664
Source identifiers:
138585
Language:
English
Keywords:
Pubs id:
pubs:138585
UUID:
uuid:559d4092-89b9-48ce-b4d5-80e4a50c8646
Local pid:
pubs:138585
Deposit date:
2012-12-19

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