Article
Telomerase RNA deficiency in peripheral blood mononuclear cells in X-linked dyskeratosis congenita.
Human genetics - 1 Oct 2004
Wong Judy M Y, Kyasa Mouhammed J, Hutchins Laura, Collins Kathleen
Abstract excerpt
Compromised renewal and eventual failure of the hematopoietic system in dyskeratosis congenita (DC) have been proposed to arise from a deficiency in telomerase function. Previously, cultured cell lines from patients with X-linked DC were shown to accumulate less telomerase RNA than cell lines from unaffected family members. Here, we report that telomerase RNA deficiency is also present in the circulating...
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