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Gain-of-Function STAT1 Mutation With Familial Lymphadenopathy and Hodgkin Lymphoma
In this report, we describe a novel T437N STAT1 mutation found in a mother and 3 of her 4 children which we demonstrate yields gain-of-function. All of the four patients with the T437N STAT1 mutation experienced lymphadenopathy. However, two of the children developed Nodular Lymphocyte Predominant H...
Autores principales: | Henrickson, Sarah E., Dolan, Joseph G., Forbes, Lisa R., Vargas-Hernández, Alexander, Nishimura, Shiho, Okada, Satoshi, Kersun, Leslie S., Brodeur, Garrett M., Heimall, Jennifer R. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6503099/ https://www.ncbi.nlm.nih.gov/pubmed/31114772 http://dx.doi.org/10.3389/fped.2019.00160 |
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