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Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10

Dyskeratosis congenita (DC) is characterized by multiple features including mucocutaneous abnormalities, bone marrow failure and an increased predisposition to cancer. It exhibits marked clinical and genetic heterogeneity. DKC1 encoding dyskerin, a component of H/ACA small nucleolar ribonucleoprotei...

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Detalhes bibliográficos
Main Authors: Walne, Amanda J., Vulliamy, Tom, Marrone, Anna, Beswick, Richard, Kirwan, Michael, Masunari, Yuka, Al-Qurashi, Fat-hia, Aljurf, Mahmoud, Dokal, Inderjeet
Formato: Artigo
Idioma:Inglês
Publicado em: 2007
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2882227/
https://ncbi.nlm.nih.gov/pubmed/17507419
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddm111
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