SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation

SLC39A8 is a membrane transporter responsible for manganese uptake into the cell. Via whole-exome sequencing, we studied a child that presented with cranial asymmetry, severe infantile spasms with hypsarrhythmia, and dysproportionate dwarfism. Analysis of transferrin glycosylation revealed severe dy...

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Bibliografiske detaljer
Udgivet i:Am J Hum Genet
Main Authors: Park, Julien H., Hogrebe, Max, Grüneberg, Marianne, DuChesne, Ingrid, von der Heiden, Ava L., Reunert, Janine, Schlingmann, Karl P., Boycott, Kym M., Beaulieu, Chandree L., Mhanni, Aziz A., Innes, A. Micheil, Hörtnagel, Konstanze, Biskup, Saskia, Gleixner, Eva M., Kurlemann, Gerhard, Fiedler, Barbara, Omran, Heymut, Rutsch, Frank, Wada, Yoshinao, Tsiakas, Konstantinos, Santer, René, Nebert, Daniel W., Rust, Stephan, Marquardt, Thorsten
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2015
Fag:
Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4678430/
https://ncbi.nlm.nih.gov/pubmed/26637979
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2015.11.003
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