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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Detaylı Bibliyografya
Asıl Yazarlar: Knight, S W, Vulliamy, T, Forni, G L, Oscier, D, Mason, P J, Dokal, I
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 1996
Konular:
Research Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050808/
https://ncbi.nlm.nih.gov/pubmed/9004129
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