Identification and functional characterization of 2 variant alleles of the telomerase RNA template gene (TERC) in a patient with dyskeratosis congenita

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 wi...

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Xehetasun bibliografikoak
Egile Nagusiak: Ly, Hinh, Schertzer, Mike, Jastaniah, Wasil, Davis, Jeff, Yong, Siu Li, Ouyang, Qin, Blackburn, Elizabeth H., Parslow, Tristram G., Lansdorp, Peter M.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: The American Society of Hematology 2005
Gaiak:
Hematopoiesis
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC1895192/
https://ncbi.nlm.nih.gov/pubmed/15886322
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2005-01-0247
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