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Document type:
Journal Article
Author(s):
Ortmann, CA; Niemeyer, CM; Wawer, A; Ebell, W; Baumann, I; Kratz, CP
Title:
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.
Journal title abbreviation:
Haematologica
Year:
2006
Journal volume:
91
Journal issue:
5
Pages contribution:
707-8
Language:
eng
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/16670076
Print-ISSN:
0390-6078
TUM Institution:
Klinik und Poliklinik für Kinderheilkunde und Jugendmedizin
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