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Article

Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease.

American journal of human genetics - 9 Mar 2012

Quadri Marialuisa, Federico Antonio, Zhao Tianna, Breedveld Guido J, Battisti Carla, Delnooz Cathérine, Severijnen Lies-Anne, Di Toro Mammarella Lara, Mignarri Andrea, Monti Lucia, Sanna Antioco, Lu Peng, Punzo Francesca, Cossu Giovanni, Willemsen Rob, Rasi Fabrizio, Oostra Ben A, van de Warrenburg Bart P, Bonifati Vincenzo

Abstract excerpt

Manganese is essential for several metabolic pathways but becomes toxic in excessive amounts. Manganese levels in the body are therefore tightly regulated, but the responsible protein(s) remain incompletely known. We studied two consanguineous families with neurologic disorders including juvenile...

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Identifiers

PMID: 22341971
DOI: 10.1016/j.ajhg.2012.01.017
PMCID: PMC3309204

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22341971-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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