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. 2016 Oct 2;9:29–30. doi: 10.1016/j.ymgmr.2016.09.004

Fig. 1.

Fig. 1

— A) Schematic representation of described mutations in LPIN1 gene. The new splicing mutation found in this study is shown in bold. B) LPIN1 splicing mutation (c.2142-2A > G) in heterozygous and homozygous state, compared to the wild-type sequence.