Concepedia

X-Linked Dyskeratosis Congenita Is Predominantly Caused by Missense Mutations in the DKC1 Gene

S. W. Knight, Nina S. Heiss, T. Vulliamy, S. Greschner, George Stavrides, G. Shashidhar Pai, G.G. Lestringant, Neelam Varma, Philip J. Mason, Inderjeet Dokal,

The American Journal of Human Genetics · 1999 · 264 citations · 34 references

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34

A catalogue of splice junction sequences

Stephen M. Mount · Nucleic Acids Research · 1982 · 3.9K citations · Full text

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Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion

Victoria Campuzano, Laura Montermini, María Dolores Moltó et al. · Science · 1996 · 2.8K citations

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X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions

Nina S. Heiss, S. W. Knight, Tom Vulliamy et al. · Nature Genetics · 1998 · 961 citations

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Nopp 140 shuttles on tracks between nucleolus and cytoplasm

U. Thomas Meier, Günter Blobel · Cell · 1992 · 420 citations

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The box H+ACA snoRNAs carry Cbf5p, the putative rRNA pseudouridine synthase

Denis L. J. Lafontaine, Cécile Bousquet‐Antonelli, Yves Henry et al. · Genes & Development · 1998 · 341 citations · Full text

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