Juneja, Monica

A novel mutation in SLC39A14 causing hypermanganesemia associated with infantile onset dystonia. [electronic resource] - The journal of gene medicine 04 2018 - e3012 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1521-2254

10.1002/jgm.3012 doi


Cation Transport Proteins--genetics
Female
Humans
Infant
Manganese--blood
Metabolic Diseases--blood
Neurodegenerative Diseases--blood
Pedigree
Exome Sequencing