A frameshift variant in specificity protein 1 triggers superactivation of Sp1-mediated transcription in familial bone marrow failure
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DOI: 10.1073/pnas.2002857117
Abstract: Significance Bone marrow failure (BMF) syndromes are inherited life-threatening conditions characterized by low blood cell production and predisposition to cancer. In this study we report a germ line frameshift variant in the Sp1 transcription factor… read more here.
Keywords: transcription; superactivation sp1; frameshift variant; sp1 ... See more keywords