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Molecular Basis of Transient Neonatal Zinc Deficiency: NOVEL ZnT2 MUTATIONS DISRUPTING ZINC BINDING AND PERMEATION

A gradually increasing number of transient neonatal zinc deficiency (TNZD) cases was recently reported, all of which were associated with inactivating ZnT2 mutations. Here we characterized the impact of three novel heterozygous ZnT2 mutations G280R, T312M, and E355Q, which cause TNZD in exclusively...

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Bibliografiset tiedot
Julkaisussa:J Biol Chem
Päätekijät: Golan, Yarden, Itsumura, Naoya, Glaser, Fabian, Berman, Bluma, Kambe, Taiho, Assaraf, Yehuda G.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: American Society for Biochemistry and Molecular Biology 2016
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Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC4919441/
https://ncbi.nlm.nih.gov/pubmed/27137936
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M116.732693
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