Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and RothmundThomson syndrome

Author： Walne Amanda J.   Vulliamy Tom   Beswick Richard   Kirwan Michael   Dokal Inderjeet  

Publisher： Oxford University Press

ISSN： 1460-2083

Source： Human Molecular Genetics, Vol.19, Iss.22, 2010-11, pp. : 4453-4461

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