A Dominant Negative Heterozygous G87R Mutation in the Zinc Transporter, ZnT-2 (SLC30A2), Results in Transient Neonatal Zinc Deficiency

Zinc is an essential mineral, and infants are particularly vulnerable to zinc deficiency as they require large amounts of zinc for their normal growth and development. We have recently described the first loss-of-function mutation (H54R) in the zinc transporter ZnT-2 (SLC30A2) in mothers with infant...

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Bibliografische gegevens
Hoofdauteurs: Lasry, Inbal, Seo, Young Ah, Ityel, Hadas, Shalva, Nechama, Pode-Shakked, Ben, Glaser, Fabian, Berman, Bluma, Berezovsky, Igor, Goncearenco, Alexander, Klar, Aharon, Levy, Jacob, Anikster, Yair, Kelleher, Shannon L., Assaraf, Yehuda G.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: American Society for Biochemistry and Molecular Biology 2012
Onderwerpen:
Molecular Bases of Disease
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3436150/
https://ncbi.nlm.nih.gov/pubmed/22733820
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M112.368159
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