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Telomerase mutations
Mutations in telomerase RNA have been found in patients with inherited dyskeratosis congenita.
Email: Jonathan B Weitzman - jonathanweitzman@hotmail.com News from The Scientist 2001, 2(1):20011002-01
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Patients with dyskeratosis congenita suffer from defects in skin, nails, hair and gut, and usually die from bone-marrow failure. An X-linked form of the disease is due to mutations in the DKC1 gene that encodes dyskerin, a protein associated with small nucleolar RNAs and telomerase RNA (hTR). In the September 27 Nature, Tom Vulliamy and researchers at Imperial College and the Hammersmith Hospital, London, UK, identify mutations that cause autosomal dominant dyskeratosis congenita (Nature 2001, 413:432-435).
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