Report of an Italian family carrying a typical Indian variant of the Nilgiris tribal groups resulting from a de novo occurrence

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 G6PD Nilgiri (c.593G>A, p.Arg198His), a typical Indian variant of the Nilgiris tribal groups. Further, this variant was biochemically cha...

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Detalles Bibliográficos
Autores principales: Canu, Giulia, Mazzuccato, Giorgia, Urbani, Andrea, Minucci, Angelo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2018
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5752699/
https://www.ncbi.nlm.nih.gov/pubmed/29333274
http://dx.doi.org/10.1038/hgv.2017.57

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5752699/
https://www.ncbi.nlm.nih.gov/pubmed/29333274
http://dx.doi.org/10.1038/hgv.2017.57

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