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4. A novel missense mutation in the DKC1 gene in a Japanese family with X-linked dyskeratosis congenita. Hiramatsu H; Fujii T; Kitoh T; Sawada M; Osaka M; Koami K; Irino T; Miyajima T; Ito M; Sugiyama T; Okuno T Pediatr Hematol Oncol; 2002 Sep; 19(6):413-9. PubMed ID: 12186364 [TBL] [Abstract][Full Text] [Related]
5. Identification of a novel mutation and a de novo mutation in DKC1 in two Chinese pedigrees with Dyskeratosis congenita. Ding YG; Zhu TS; Jiang W; Yang Y; Bu DF; Tu P; Zhu XJ; Wang BX J Invest Dermatol; 2004 Sep; 123(3):470-3. PubMed ID: 15304085 [TBL] [Abstract][Full Text] [Related]
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8. One novel and two recurrent missense DKC1 mutations in patients with dyskeratosis congenita (DKC). Heiss NS; Mégarbané A; Klauck SM; Kreuz FR; Makhoul E; Majewski F; Poustka A Genet Couns; 2001; 12(2):129-36. PubMed ID: 11491307 [TBL] [Abstract][Full Text] [Related]
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10. Missense mutation in a patient with X-linked dyskeratosis congenita. Kraemer DM; Goebeler M Haematologica; 2003 Apr; 88(4):ECR11. PubMed ID: 12681984 [TBL] [Abstract][Full Text] [Related]
11. Targeted disruption of Dkc1, the gene mutated in X-linked dyskeratosis congenita, causes embryonic lethality in mice. He J; Navarrete S; Jasinski M; Vulliamy T; Dokal I; Bessler M; Mason PJ Oncogene; 2002 Oct; 21(50):7740-4. PubMed ID: 12400016 [TBL] [Abstract][Full Text] [Related]
12. Novel mutations of the DKC1 gene in individuals affected with dyskeratosis congenita. Rostamiani K; Klauck SM; Heiss N; Poustka A; Khaleghi M; Rosales R; Metzenberg AB Blood Cells Mol Dis; 2010; 44(2):88. PubMed ID: 19879169 [No Abstract] [Full Text] [Related]
13. Dyskeratosis congenita--two siblings with a new missense mutation in the DKC1 gene. Coelho JD; Lestre S; Kay T; Lopes MJ; Fiadeiro T; Apetato M Pediatr Dermatol; 2011; 28(4):464-6. PubMed ID: 21736606 [TBL] [Abstract][Full Text] [Related]
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