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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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Bibliografski detalji
Glavni autori: Walne, Amanda J., Vulliamy, Tom, Marrone, Anna, Beswick, Richard, Kirwan, Michael, Masunari, Yuka, Al-Qurashi, Fat-hia, Aljurf, Mahmoud, Dokal, Inderjeet
Format: Artigo
Jezik:Inglês
Izdano: 2007
Teme:
Online pristup: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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