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Assorted dysfunctions of endosomal alkali cation/proton exchanger SLC9A6 variants linked to Christianson syndrome

Genetic screening has identified numerous variants of the endosomal solute carrier family 9 member A6 (SLC9A6)/(Na(+),K(+))/H(+) exchanger 6 (NHE6) gene that cause Christianson syndrome, a debilitating X-linked developmental disorder associated with a range of neurological, somatic, and behavioral s...

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Bibliografske podrobnosti
izdano v:J Biol Chem
Main Authors: Ilie, Alina, Boucher, Annie, Park, Jaeok, Berghuis, Albert Marinus, McKinney, R. Anne, Orlowski, John
Format: Artigo
Jezik:Inglês
Izdano: American Society for Biochemistry and Molecular Biology 2020
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC7242699/
https://ncbi.nlm.nih.gov/pubmed/32277048
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.RA120.012614
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