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.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5752699PMC
http://dx.doi.org/10.1038/hgv.2017.57DOI Listing

Publication Analysis

Top Keywords

family carrying
8
typical indian
8
indian variant
8
variant nilgiris
8
nilgiris tribal
8
tribal groups
8
report italian
4
family
4
italian family
4
carrying typical
4

Similar Publications

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!