Article
The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita.
Nature - 27 Sept 2001
Vulliamy T, Marrone A, Goldman F, Dearlove A, Bessler M, Mason P J, Dokal I
Abstract excerpt
Dyskeratosis congenita is a progressive bone-marrow failure syndrome that is characterized by abnormal skin pigmentation, leukoplakia and nail dystrophy. X-linked, autosomal recessive and autosomal dominant inheritance have been found in different pedigrees. The X-linked form of the disease is due to mutations in the gene DKC1 in band 2, sub-band 8 of the long arm of the X chromosome (ref. 3). The affected...
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