Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC

Nature Genetics

Volumn 36, Issue 5, 2004, Pages 447-449

  Vulliamy, Tom ^a   Marrone, Anna ^a   Szydlo, Richard ^a   Walne, Amanda ^a   Mason, Philip J ^a,b   Dokal, Inderjeet ^a  

^a HAMMERSMITH HOSPITAL   (United Kingdom)

^b WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE COURSE; DYSKERATOSIS CONGENITA; FAMILY STUDY; FEMALE; GENE DELETION; GENE MUTATION; GENETIC CODE; GENETIC PREDISPOSITION; HETEROZYGOSITY; HUMAN; MALE; ONSET AGE; PRIORITY JOURNAL; SOUTHERN BLOTTING; TELOMERE;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DYSKERATOSIS CONGENITA; FAMILY; FEMALE; GENES, DOMINANT; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; RNA; SEQUENCE DELETION; TELOMERASE; TELOMERE;

EID: 2442617343     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng1346     Document Type: Article

References (15)

1. Greider, C.W. Ann. Rev. Biochem. 65, 337-365 (1996).
2. Dokal, I. Br. J. Haematol. 110, 768-779 (2000).
3. Tollervey, D. & Kiss, T. Curr. Opin. Cell Biol. 9, 337-342 (1997).
4. Mitchell, J.R., Wood, E. & Collins, K. Nature 402, 551-555 (1999).
5. Heiss, N.S. et al. Nat. Genet. 19, 32-38 (1998).
6. Vulliamy, T. et al. Nature 413, 432-435 (2001).
7. Fu, D. & Collins, K. Mol. Cell 11, 1361-1372 (2003).
8. Vulliamy, T., Marrone, A., Dokal, I. & Mason, P.J. Lancet 359, 2168-2170 (2002).
9. Brown, W.R. et al. Cell. 63,119-132 (1990).
10. Notaro, R., Cimmino, A., Tabarini, D., Rotoli, B. & Luzzatto, L. Proc. Natl. Acad. Sci. USA 94, 13782-13785 (1997).
11. Brummendorf, T., Maciejeweski, J. P., Mak, J., Young, N.S. & Lansdorp P.M. Blood 97, 895-900 (2001).
12. Baird, D.M., Rowson, J., Wynford-Thomas, D. & Kipling, D. Nature Genet. 33, 203-207 (2003).
13. Lindblad, K. & Schalling, M. Semin. Neurol. 19, 289-299 (1999).
14. Blasco, M.A. et al. Cell 91, 25-34 (1997).
15. Hathcock, K.S. et al. Proc. Natl. Acad. Sci. USA 99, 3591-3596 (2002).