Thyroid Transcription Factor 1 Rescues PAX8/p300 Synergism Impaired by a Natural PAX8 Paired Domain Mutation with Dominant Negative Activity
Mutations in the paired domain transcription factor PAX8 are a rare cause of congenital hypothyroidism due to thyroid dysgenesis. We identified a novel and unique PAX8 mutation segregating in seven affected members of a three-generations family. The mutation replaces an invariant serine residue with...
-д хадгалсан:
| Үндсэн зохиолчид: | , , , , , |
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| Формат: | Artigo |
| Хэл сонгох: | англи |
| Хэвлэсэн: |
2005
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| Онлайн хандалт: | https://doi.org/10.1210/me.2004-0426 https://academic.oup.com/mend/article-pdf/19/7/1779/8952756/mend1779.pdf |
| Шошгууд: |
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