Inherited SHQ1 mutations impair interaction with NAP57/dyskerin, a major target in dyskeratosis congenita
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DOI: 10.1002/mgg3.314
Abstract: 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… read more here.
Keywords: dyskeratosis congenita; dyskerin; interaction nap57; shq1 mutations ... See more keywords