Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease

Maja Tarailo-Graovac*, Britt Drögemöller*, Wyeth Wasserman, Colin Ross, Ans van den Ouweland, Niklas Darin, Gittan Kollberg, Clara van Karnebeek, Maria Blomqvist, *These authors contributed equally to the work

January 2017

Type

Journal article

Publication

Orphanet Journal of Rare Diseases