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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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Detalhes bibliográficos
Main Authors: Safa, W, Lestringant, G, Frossard, P
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2001
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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