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Article

DKC1 gene mutation in a Taiwanese kindred with X-linked dyskeratosis congenita.

The Kaohsiung journal of medical sciences - 1 Nov 2002

Lin Jeng-Hsien, Lee J Yu-Yun, Tsao Chao-Jung, Chao Sheau-Chiou

Abstract excerpt

Dyskeratosis congenita (DKC) is a rare inherited disease characterized by the triad of abnormal skin pigmentation, nail dystrophy, and mucosal leukoplakia. Recent studies demonstrated mutations in the DKC1 gene encoding a protein named dyskerin, which is a component of human telomerase. In addition to the hypothesized function of pseudouridination in rRNA biosynthesis, ribosomal subunit assembly, and/or...

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Source

Identifiers

PMID: 12513020

Genes

DKC1

Provenance

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DKC1 gene mutation in a Taiwanese kindred with X-linked dyskeratosis congenita.PMID 12513020Read ↗

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Identification and Computational Analysis of a Novel Pathogenic DKC1 Variant Underlying X-Linked Dyskeratosis Congenita.Semantic proximity Read ↗

Dyskeratosis congenita: molecular insights into telomerase function, ageing and cancer.Semantic proximity Read ↗

Investigation of chromosome X inactivation and clinical phenotypes in female carriers of DKC1 mutations.Semantic proximity Read ↗

Telomere phenotypes in females with heterozygous mutations in the dyskeratosis congenita 1 (DKC1) gene.Semantic proximity Read ↗

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Identification of a novel mutation in DKC1 in dyskeratosis congenita.Semantic proximity Read ↗

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