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Impact of germline CTC 1 alterations on telomere length in acquired bone marrow failure

19 Mar 2019

Abstract excerpt

Compound heterozygous germline mutations in CTC1 gene have been found in patients with atypical dyskeratosis congenita (DC), whereas heterozygous carriers are unaffected. Through screening of a large cohort of adult patients with acquired bone marrow failure syndromes, in addition to a DC case, we have also found extremely rare or novel heterozygous deleterious germline variants of CTC1 in patients with aplastic...

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PMID: 30891747
DOI: 10.1111/bjh.15862

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