Article
Molecular Basis of Transient Neonatal Zinc Deficiency: NOVEL ZnT2 MUTATIONS DISRUPTING ZINC BINDING AND PERMEATION.
The Journal of biological chemistry - 24 Jun 2016
Golan Yarden, Itsumura Naoya, Glaser Fabian, Berman Bluma, Kambe Taiho, Assaraf Yehuda G
Abstract excerpt
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 breastfed infants of Japanese mothers. We used the bimolecular fluorescence complementation (BiFC) assay to provide...
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