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Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants

scientific article published on 29 May 2012

Author/s

author: Allan M Lund, Arnold J J Reuser, Ans van der Ploeg, Marian A Kroos, Marianne Hoogeveen-Westerveld

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Work details

Publication date
May 29, 2012
- -
Language
English

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