难治性血细胞减少症患儿的TERC基因突变
TERC mutations in children with refractory cytopenia.
作者信息
Ortmann Christina A, Niemeyer Charlotte M, Wawer Angela, Ebell Wolfram, Baumann Irith, Kratz Christian P
出版信息
Haematologica. 2006 May;91(5):707-8.
PMID:16670076
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.
摘要
人类端粒酶RNA基因（TERC）突变可导致常染色体显性遗传性先天性角化不良，并且在骨髓衰竭患者中也已被检测到。在此，我们对80名低细胞性骨髓增生异常综合征患儿进行了TERC突变筛查，其中两名患儿检测到TERC改变。
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