Article
Identification and functional characterization of 2 variant alleles of the telomerase RNA template gene (TERC) in a patient with dyskeratosis congenita.
Blood - 15 Aug 2005
Ly Hinh, Schertzer Mike, Jastaniah Wasil, Davis Jeff, Yong Siu Li, Ouyang Qin, Blackburn Elizabeth H, Parslow Tristram G, Lansdorp Peter M
Abstract excerpt
Heterozygous mutations of the human telomerase RNA template gene (TERC) have been described in patients with acquired aplastic anemia and the autosomal dominant form of dyskeratosis congenita (DKC). Patients with mutations in both TERC alleles have not yet been reported. Here, we report a patient with DKC who inherited 2 distinct TERC sequence variants from her parents; a deletion (216_229del) in one and a point...
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