TERC mutations in children with refractory cytopenia.

Dokumenttyp:: Journal Article
Autor(en):: Ortmann, CA; Niemeyer, CM; Wawer, A; Ebell, W; Baumann, I; Kratz, CP
Titel:: TERC mutations in children with refractory cytopenia.
Abstract:: 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.
Zeitschriftentitel:: Haematologica
Jahr:: 2006
Band / Volume:: 91
Heft / Issue:: 5
Seitenangaben Beitrag:: 707-8
Sprache:: eng
PubMed:: http://view.ncbi.nlm.nih.gov/pubmed/16670076
Print-ISSN:: 0390-6078
TUM Einrichtung:: Klinik und Poliklinik für Kinderheilkunde und Jugendmedizin
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