Mosaicism of the UDP-Galactose transporter SLC35A2 in a female causing a congenital disorder of glycosylation: A case report

Kristen Westenfield, Kyriakie M Sarafoglou, Laura C Speltz, Rene Pierpont, Joan Steyermark, David R Nascene, Matthew Bower, Mary Ella M Pierpont

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Biochemistry, Genetics and Molecular Biology