Article
TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements.
Blood - 8 Jan 2009
Du Hong-Yan, Pumbo Elena, Ivanovich Jennifer, An Ping, Maziarz Richard T, Reiss Ulrike M, Chirnomas Deborah, Shimamura Akiko, Vlachos Adrianna, Lipton Jeffrey M, Goyal Rakesh K, Goldman Frederick, Wilson David B, Mason Philip J, Bessler Monica
Abstract excerpt
Dyskeratosis congenita (DC) is a rare inherited form of bone marrow failure (BMF) caused by mutations in telomere maintaining genes including TERC and TERT. Here we studied the prevalence of TERC and TERT gene mutations and of telomere shortening in an unselected population of patients with BMF at our medical center and in a selected group of patients referred from outside institutions. Less than 5% of patients...
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