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X-linked dyskeratosis congenita: restrictive pulmonary disease and a novel mutation
Dyskeratosis congenita (DC) is a rare inherited multisystem disorder characterised by lesions of the skin and appendages. Bone marrow failure occurs in 80% of patients. The gene for the X-linked form of DC has been identified on Xq28 and designated as DKC1. Pulmonary manifestations have rarely been...
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| Main Authors: | , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Group
2001
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1745968/ https://ncbi.nlm.nih.gov/pubmed/11641517 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/thorax.56.11.891 |
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