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

作者: Monica Juneja , Uzma Shamim , Aditi Joshi , Aaradhna Mathur , Bharathram Uppili

DOI: 10.1002/JGM.3012

关键词:

摘要: … hepatic excretion of Mn into the bile.3 This is brought about by various metal transporters, such as divalent metal transporter-1, transferrin receptor … Data Bank (PDB) showed homology …

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