Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The DUOX2 gene encodes an important enzyme to thyroid hormone production. Mutations cause autosomal recessive thyroid dyshormonogenesis 6.
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Research | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 1. |
Moreno JC et al. (2002) Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism. 
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| 2. |
Vigone MC et al. (2005) Persistent mild hypothyroidism associated with novel sequence variants of the DUOX2 gene in two siblings.
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| 3. |
Dupuy C et al. (1999) Purification of a novel flavoprotein involved in the thyroid NADPH oxidase. Cloning of the porcine and human cdnas.
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| 4. |
De Deken X et al. (2000) Cloning of two human thyroid cDNAs encoding new members of the NADPH oxidase family.
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| 5. |
Caillou B et al. (2001) Expression of reduced nicotinamide adenine dinucleotide phosphate oxidase (ThoX, LNOX, Duox) genes and proteins in human thyroid tissues.
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| 6. |
Lacroix L et al. (2001) Expression of nicotinamide adenine dinucleotide phosphate oxidase flavoprotein DUOX genes and proteins in human papillary and follicular thyroid carcinomas.
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| 7. |
Grasberger H et al. (2006) Identification of the maturation factor for dual oxidase. Evolution of an eukaryotic operon equivalent.
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| 8. |
Niethammer P et al. (2009) A tissue-scale gradient of hydrogen peroxide mediates rapid wound detection in zebrafish.
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| 9. |
NCBI article NCBI 50506
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| 10. |
OMIM.ORG article Omim 606759
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| 11. |
Orphanet article Orphanet ID 121233
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| 12. |
Wikipedia article Wikipedia EN (Dual_oxidase_2)
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