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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 unrelated patients were subsequently identified in XAP101, indicating that it is the gene responsible for X-linked DKC...

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Identifiers

PMID: 9590285
DOI: 10.1038/ng0598-32

Genes

DKC1

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X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions.PMID 9590285Read ↗

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