Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies.

Authors

Lance H Rodan
Marissa Hauptman
Alissa M D'Gama
Anita E Qualls
Siqi Cao
Karin Tuschl
Fatma Al-Jasmi
Jozef Hertecant
Susan J Hayflick
Marianne Wessling-Resnick
Edward T Yang
Gerard T Berry
Andrea Gropman, George Washington University
Alan D Woolf
Pankaj B Agrawal

Document Type

Journal Article

Publication Date

6-1-2018

Journal

Molecular genetics and metabolism

Volume

124

Issue

2

Inclusive Pages

161-167

DOI

10.1016/j.ymgme.2018.04.002

Keywords

Cation Transport Proteins; Chelating Agents; Child; Child, Preschool; Dystonic Disorders; Female; Humans; Male; Manganese; Metal Metabolism, Inborn Errors; Mutation; Parkinsonian Disorders; Pedigree

APA Citation

Rodan, L., Hauptman, M., D'Gama, A., Qualls, A., Cao, S., Tuschl, K., Al-Jasmi, F., Hertecant, J., Hayflick, S., Wessling-Resnick, M., Yang, E., Berry, G., Gropman, A., Woolf, A., & Agrawal, P. (2018). Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies.. Molecular genetics and metabolism, 124 (2). http://dx.doi.org/10.1016/j.ymgme.2018.04.002

Peer Reviewed

1