Dyskeratosis Congenita: The First NIH Clinical Research Workshop

Dyskeratosis congenita (DC) is a heterogeneous inherited bone marrow failure syndrome, characterized by abnormally short telomeres and mutations in telomere biology genes. The spectrum of telomere biology disorders is growing and the clinical management of these patients is complex. A DC-specific wo...

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Detalhes bibliográficos
Main Authors: Savage, Sharon A., Dokal, Inderjeet, Armanios, Mary, Aubert, Geraldine, Cowen, Edward W., Domingo, Demetrio L., Giri, Neelam, Greene, Mark H., Orchard, Paul J., Tolar, Jakub, Tsilou, Ekaterini, Van Waes, Carter, Wong, Judy M.Y., Young, Neal S., Alter, Blanche P.
Formato: Artigo
Idioma:Inglês
Publicado em: 2009
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2739803/
https://ncbi.nlm.nih.gov/pubmed/19415736
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/pbc.22061
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