Dyskerin
Template:PBB H/ACA ribonucleoprotein complex subunit 4 is a protein that in humans is encoded by the DKC1 gene.[1][2][3]
Clinical significance
Mutations in DKC1 are associated to Template:SWL.[4]
References
- ^ Heiss NS, Knight SW, Vulliamy TJ, Klauck SM, Wiemann S, Mason PJ, Poustka A, Dokal I (May 1998). "X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions". Nat Genet. 19 (1): 32–8. doi:10.1038/ng0598-32. PMID 9590285.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - ^ Hassock S, Vetrie D, Giannelli F (Mar 1999). "Mapping and characterization of the X-linked dyskeratosis congenita (DKC) gene". Genomics. 55 (1): 21–7. doi:10.1006/geno.1998.5600. PMID 9888995.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - ^ "Entrez Gene: DKC1 dyskeratosis congenita 1, dyskerin".
- ^ Lim, B. C.; Yoo, S. K.; Lee, S; Shin, J. Y.; Hwang, H; Chae, J. H.; Hwang, Y. S.; Seo, J. S.; Kim, J. I.; Kim, K. J. (2014). "Hoyeraal-Hreidarsson syndrome with a DKC1 mutation identified by whole-exome sequencing". Gene. 546 (2): 425–9. doi:10.1016/j.gene.2014.06.011. PMID 24914498.
Further reading
External links
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