Citations for
1HMNDYT2, SLC39A14
A novel mutation in SLC39A14 causing hypermanganesemia associated with infantile onset dystonia.
Juneja M, Shamim U, Joshi A, Aradhna, Uppili B, Sairam S, Ambawat S, Dixit R, Faruq M.
J Gene Med Gene Med. 2018 Mar 2. doi: 10.1002/jgm.3012. [Epub ahead of print] 2018
2HMNDYT2, SLC39A14
Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia.
Tuschl K, Meyer E, Valdivia LE, Zhao N, Dadswell C, Abdul-Sada A, Hung CY, Simpson MA, Chong WK, Jacques TS, Woltjer RL, Eaton S, Gregory A, Sanford L, Kara E, Houlden H, Cuno SM, Prokisch H, Valletta L, Tiranti V, Younis R, Maher ER, Spencer J, Straatman-Iwanowska A, Gissen P, Selim LA, Pintos-Morell G, Coroleu-Lletget W, Mohammad SS, Yoganathan S, Dale RC, Thomas M, Rihel J, Bodamer OA, Enns CA, Hayflick SJ, Clayton PT, Mills PB, Kurian MA, Wilson SW.
Nat Commun 7:11601. doi: 10.1038/ncomms11601. 2016