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...

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Bibliografske podrobnosti
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
Format: Artigo
Jezik:Inglês
Izdano: 1999
Teme:
Research Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC1378074/
https://ncbi.nlm.nih.gov/pubmed/10364516
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