A novel mutation in SLC39A14 causing hypermanganesemia associated with infantile onset dystonia

ConclusionTogether we conclude that the mutation identified in SLC39A14 in our case is a novel variation linked to recessive disorders of hypermaganesemia and dystonia.

http://onlinelibrary.wiley.com/resolve/doi?DOI=10.1002%2Fjgm.3012

Source: The Journal of Gene Medicine - January 1, 2018 Category: Genetics & Stem Cells Authors: Monica Juneja, Uzma Shamim, Aditi Joshi, Aradhna, Bharathram Uppili, Smitha Sairam, Sakshi Ambawat, Rashmi Dixit, Mohammed Faruq Tags: RESEARCH ARTICLE Source Type: research