Fine mapping of the dyskeratosis congenita locus in Xq28.

Dyskeratosis congenita (DC) is characterised by reticulate skin pigmentation, mucosal leucoplakia, and nail dystrophy. Bone marrow failure occurs in 50% of patients and is the principal cause of early mortality. In the majority of families the pattern of inheritance of DC is compatible with an X lin...

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Bibliographic Details
Main Authors: Knight, S W, Vulliamy, T, Forni, G L, Oscier, D, Mason, P J, Dokal, I
Format: Artigo
Language:Inglês
Published: 1996
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Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050808/
https://ncbi.nlm.nih.gov/pubmed/9004129
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