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Maria M. Gramatges
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Journal Articles

A homozygous telomerase T-motif variant resulting in markedly reduced repeat addition processivity in siblings with Hoyeraal Hreidarsson syndrome

Maria M. Gramatges, Xiaodong Qi, Ghadir S. Sasa, Julian J.-L. Chen, Alison A. Bertuch
Journal: Blood
Blood (2013) 121 (18): 3586–3593.
https://doi.org/10.1182/blood-2012-08-447755
Published: 2013
Includes: Supplemental data