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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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
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author Canu, Giulia
Mazzuccato, Giorgia
Urbani, Andrea
Minucci, Angelo
author_facet Canu, Giulia
Mazzuccato, Giorgia
Urbani, Andrea
Minucci, Angelo
author_sort Canu, Giulia
collection PubMed
description 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 characterized, and the molecular screening of the family highlighted a de novo mutational event. To date, this family is the first Caucasian family carrying the G6PD Nilgiri variant.
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spelling pubmed-57526992018-01-12 Report of an Italian family carrying a typical Indian variant of the Nilgiris tribal groups resulting from a de novo occurrence Canu, Giulia Mazzuccato, Giorgia Urbani, Andrea Minucci, Angelo Hum Genome Var Data Report 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 characterized, and the molecular screening of the family highlighted a de novo mutational event. To date, this family is the first Caucasian family carrying the G6PD Nilgiri variant. Nature Publishing Group 2018-01-04 /pmc/articles/PMC5752699/ /pubmed/29333274 http://dx.doi.org/10.1038/hgv.2017.57 Text en Copyright © 2018 The Author(s) http://creativecommons.org/licenses/by/4.0/ This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/
spellingShingle Data Report
Canu, Giulia
Mazzuccato, Giorgia
Urbani, Andrea
Minucci, Angelo
Report of an Italian family carrying a typical Indian variant of the Nilgiris tribal groups resulting from a de novo occurrence
title Report of an Italian family carrying a typical Indian variant of the Nilgiris tribal groups resulting from a de novo occurrence
title_full Report of an Italian family carrying a typical Indian variant of the Nilgiris tribal groups resulting from a de novo occurrence
title_fullStr Report of an Italian family carrying a typical Indian variant of the Nilgiris tribal groups resulting from a de novo occurrence
title_full_unstemmed Report of an Italian family carrying a typical Indian variant of the Nilgiris tribal groups resulting from a de novo occurrence
title_short Report of an Italian family carrying a typical Indian variant of the Nilgiris tribal groups resulting from a de novo occurrence
title_sort report of an italian family carrying a typical indian variant of the nilgiris tribal groups resulting from a de novo occurrence
topic Data Report
url 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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