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Elsevier, Molecular Genetics and Metabolism, 3(119), p. 258-269, 2016

DOI: 10.1016/j.ymgme.2016.08.007

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The prevalent deep intronic c. 639 + 919 G > A GLA mutation causes pseudoexon activation and Fabry disease by abolishing the binding of hnRNPA1 and hnRNP A2/B1 to a splicing silencer

This paper was not found in any repository, but could be made available legally by the author.
This paper was not found in any repository, but could be made available legally by the author.

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