Article
TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita.
American journal of human genetics - 1 Feb 2008
Savage Sharon A, Giri Neelam, Baerlocher Gabriela M, Orr Nick, Lansdorp Peter M, Alter Blanche P
Abstract excerpt
Patients with dyskeratosis congenita (DC), a heterogeneous inherited bone marrow failure syndrome, have abnormalities in telomere biology, including very short telomeres and germline mutations in DKC1, TERC, TERT, or NOP10, but approximately 60% of DC patients lack an identifiable mutation. With the very short telomere phenotype and a highly penetrant, rare disease model, a linkage scan was performed on a family...
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