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CTC1 Mutations in a Patient with Dyskeratosis Congenita
Dyskeratosis congenita (DC) is a rare inherited bone marrow failure syndrome caused by mutations in 7 genes involved in telomere biology, with approximately 50% of cases remaining genetically uncharacterized. We report a patient with classic DC carrying a compound heterozygous mutation in the CTC1 (...
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| Main Authors: | , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2012
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3374040/ https://ncbi.nlm.nih.gov/pubmed/22532422 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/pbc.24193 |
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