Title

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

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

Peer Reviewed

1

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