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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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| Autors principals: | , , , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2007
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| Matèries: | |
| Accés en línia: | 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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