G6PD deficiency is quite common in Italy where it is characterized by extreme molecular and biochemical heterogeneity. We report a 15-year-old Italian boy with p.Arg198His), a typical Indian variant of the Nilgiris tribal groups. Further, this variant was biochemically characterized, and the molecular screening of the family highlighted a mutational event. To date, this family is the first Caucasian family carrying the variant.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5752699 | PMC |
http://dx.doi.org/10.1038/hgv.2017.57 | DOI Listing |
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