Report of an Italian family carrying a typical Indian variant of the Nilgiris tribal groups resulting from a de novo occurrence.
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ABSTRACT:
SUBMITTER: Canu G
PROVIDER: S-EPMC5752699 | biostudies-literature | 2018
REPOSITORIES: biostudies-literature
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Report of an Italian family carrying a typical Indian variant of the Nilgiris tribal groups resulting from a <i>de novo</i> occurrence.
Canu Giulia G Mazzuccato Giorgia G Urbani Andrea A Minucci Angelo A
Human genome variation 20180104
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 <i>G6PD Nilgiri (c.593G>A,</i> 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 <i>de novo</i> mutational event. To date, this family is the first Caucasian family carrying the <i>G6PD Nilgiri</i> variant. ...[more]
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