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Dyskeratosis congenita

Dyskeratosis congenita (DC) was originally defined as a rare inherited bone marrow failure syndrome associated with distinct mucocutaneous features. Today DC is defined by its pathogenetic mechanism and mutations in components of the telomere maintenance machinery resulting in excessively short telo...

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Bibliografiske detaljer
Main Authors: Bessler, Monica, Wilson, David B., Mason, Philip J.
Format: Artigo
Sprog:Inglês
Udgivet: 2010
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3238451/
https://ncbi.nlm.nih.gov/pubmed/20493861
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.febslet.2010.05.019
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