X-Linked Dyskeratosis Congenita Is Predominantly Caused by Missense Mutations in the DKC1 Gene
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics
Reference39 articles.
1. The yeast gene YNL292w encodes a pseudouridine synthase (Pus4) catalyzing the formation of Psi(55) in both mitochondrial and cytoplasmic tRNAs;Becker;Nucleic Acids Res,1997
2. A novel beta-thalassemia gene with a single base mutation in the conserved polypyrimidine sequence at the 3′ end of IVS-2;Beldjord;Nucleic Acids Res,1988
3. The yeast nucleolar protein Cbf5p is involved in rRNA biosynthesis and interacts genetically with the RNA polymerase I transcription factor RRN3;Cadwell;Mol Cell Biol,1997
4. Friedreich's ataxia autosomal recessive disease caused by an intronic GAA triplet repeat expansion;Campuzano;Science,1996
5. Assignment of the gene for dyskeratosis congenita to Xq28;Connor;Hum Genet,1986
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