Article
Dyskeratosis congenita.
Cellular and molecular life sciences : CMLS - 1 Mar 2003
Marrone A, Mason P J
Abstract excerpt
Dyskeratosis congenita is an inherited skin and bone marrow failure syndrome. There are X-linked, autosomal dominant and autosomal recessive forms of the disease. The X-linked form is due to mutations in the DKC1 gene at Xq28. The encoded protein, dyskerin, is a component of both small nucleolar ribonuclear protein particles and the telomerase complex. Mutations in DKC1 mainly lead to amino acid substitutions....
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