Mosaicism of the UDP-Galactose transporter SLC35A2 in a female causing a congenital disorder of glycosylation: a case report
Westenfield, Kristen, Sarafoglou, Kyriakie, Speltz, Laura C., Pierpont, Elizabeth I., Steyermark, Joan, Nascene, David, Bower, Matthew, Pierpont, Mary EllaVolume:
19
Language:
english
Journal:
BMC Medical Genetics
DOI:
10.1186/s12881-018-0617-6
Date:
December, 2018
File:
PDF, 1.41 MB
english, 2018