Article
X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions.
Nature genetics - 1 May 1998
Heiss N S, Knight S W, Vulliamy T J, Klauck S M, Wiemann S, Mason P J, Poustka A, Dokal I
Abstract excerpt
X-linked recessive dyskeratosis congenita (DKC) is a rare bone-marrow failure disorder linked to Xq28. Hybridization screening with 28 candidate cDNAs resulted in the detection of a 3' deletion in one DKC patient with a cDNA probe (derived from XAP101). Five different missense mutations in five u...
Topics
- Amino Acid Sequence
- Animals
- Base Sequence
- Cell Cycle Proteins
- Cell Nucleolus
- DNA, Complementary
- Dyskeratosis Congenita
- Fungal Proteins
- Gene Deletion
- Genetic Linkage
- Humans
- Hydro-Lyases
- Microtubule-Associated Proteins
- Molecular Sequence Data
- Mutation
- Nuclear Proteins
- RNA-Binding Proteins
- Rats