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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group
2018
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| Materias: | |
| 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 |