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Inherited SHQ1 mutations impair interaction with NAP57/dyskerin, a major target in dyskeratosis congenita
BACKGROUND: The inherited bone marrow failure syndrome dyskeratosis congenita (DC) is most frequently caused by mutations in DKC1 (MIM# 300126), the gene encoding NAP57 (aka dyskerin). The typically missense mutations modulate the interaction of NAP57 with its chaperone SHQ1, but no DC mutations hav...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2017
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5702568/ https://www.ncbi.nlm.nih.gov/pubmed/29178645 http://dx.doi.org/10.1002/mgg3.314 |