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1.4 Mb candidate gene region for X linked dyskeratosis congenita defined by combined haplotype and X chromosome inactivation analysis.

Dyskeratosis congenita (DC) is a rare inherited disorder characterised by the early onset of reticulate skin pigmentation, nail dystrophy, and mucosal leucoplakia. In over 80% of cases bone marrow failure develops and this is the main cause of early mortality. The DC1 gene responsible for the X link...

Täydet tiedot

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Bibliografiset tiedot
Päätekijät: Knight, S W, Vulliamy, T J, Heiss, N S, Matthijs, G, Devriendt, K, Connor, J M, D'Urso, M, Poustka, A, Mason, P J, Dokal, I
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 1998
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051510/
https://ncbi.nlm.nih.gov/pubmed/9863595
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