X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.

Dyskeratosis congenita is a rare inherited bone marrow-failure syndrome characterized by abnormal skin pigmentation, nail dystrophy, and mucosal leukoplakia. More than 80% of patients develop bone-marrow failure, and this is the major cause of premature death. The X-linked form of the disease (MIM 3...

Descrición completa

Gardado en:
Detalles Bibliográficos
Main Authors: Knight, S W, Heiss, N S, Vulliamy, T J, Greschner, S, Stavrides, G, Pai, G S, Lestringant, G, Varma, N, Mason, P J, Dokal, I, Poustka, A
Formato: Artigo
Idioma:Inglês
Publicado: 1999
Assuntos:
Research Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC1378074/
https://ncbi.nlm.nih.gov/pubmed/10364516
Tags: Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!

Títulos similares