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    Additional file 3: Figure S3. of Distinct functional consequences of ECEL1/DINE missense mutations in the pathogenesis of congenital contracture disorders

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    Loss of posttranslational modification in C760R mutant protein. Western blotting analysis with glycosidase-digested protein samples from wild-type and homozygous C760R mutant embryos. In contrast to wild-type samples, only a single band could be detected in Endo H-digested mutant samples. (DOCX 74.5 kb
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