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NKX2.1 run-on mutation associated to familial brain-lung-thyroid syndrome.

作者信息

Cavaliere Elena, Gortan Anna Jolanda, Passon Nadia, Fabbro Dora, Marin Dario, Carecchio Miryam, Baldan Federica, Credendino Sara Carmela, Gallo Rosa, Cogo Paola, Damante Giuseppe, De Vita Gabriella

机构信息

Academic Hospital of Udine, Udine, Italy.

Department of Neuroscience, University of Padua, Padua, Italy.

出版信息

Clin Genet. 2021 Jul;100(1):114-116. doi: 10.1111/cge.13961. Epub 2021 Mar 29.

Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ab8c/8251915/7d0aa9c1e477/CGE-100-114-g002.jpg

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本文引用的文献

1
Benign hereditary chorea related to NKX2.1: expansion of the genotypic and phenotypic spectrum.
Dev Med Child Neurol. 2014 Jul;56(7):642-8. doi: 10.1111/dmcn.12323. Epub 2013 Oct 31.
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Degradation of mRNAs that lack a stop codon: a decade of nonstop progress.
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Thyroid-specific gene expression.
Biochim Biophys Acta. 1994 Aug 2;1218(3):255-66. doi: 10.1016/0167-4781(94)90176-7.

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