Associated Papers
A Biochemical Platform to Define the Relative Specific Activity of IDUA Variants Identified by Newborn Screening.
Yu SH et al.
International Journal of Neonatal Screening, 2020
An Altered Splicing Registry Explains the Differential ExSpeU1-Mediated Rescue of Splicing Mutations Causing Haemophilia A.
Balestra D et al.
Frontiers in Genetics, 2019
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