TERC mutations in children with refractory cytopen...[Haematologica. 2006]

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1: Haematologica. 2006 May;91(5):707-8. Links

TERC mutations in children with refractory cytopenia.

Ortmann CA, Niemeyer CM, Wawer A, Ebell W, Baumann I, Kratz CP.

Mutations in the human telomerase RNA gene (TERC) cause autosomal dominant dyskeratosis congenita and have been detected in individuals with bone marrow failure. Here, we screened for TERC mutations in a cohort of 80 children with hypocellular myelodysplastic syndrome and detected TERC alterations in two of them.

PMID: 16670076 [PubMed - indexed for MEDLINE]

Low frequency of telomerase RNA mutations among children with aplastic anemia or myelodysplastic syndrome. [J Pediatr Hematol Oncol. 2006]
Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome. [Blood. 2003]
Late presentation of dyskeratosis congenita as apparently acquired aplastic anaemia due to mutations in telomerase RNA. [Lancet. 2003]
Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure. [Blood Cells Mol Dis. 2005]
Functional characterization of novel telomerase RNA (TERC) mutations in patients with diverse clinical and pathological presentations. [Haematologica. 2007]
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TERC mutations in children with refractory cytopenia.

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