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Article . 2015 . Peer-reviewed
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Article . 2017
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Haplotype Study in Argentinean Variegate Porphyria Patients

Authors: Granata, Bárbara Xoana; Parera, Victoria Estela; Batlle, Alcira María del C.; Rossetti, Maria Victoria;

Haplotype Study in Argentinean Variegate Porphyria Patients

Abstract

<b><i>Background/Aims:</i></b> The porphyrias are genetically heterogeneous diseases, and each mutation is exclusive to one or two families. Among the mutations responsible for variegate porphyria in our country, c.1042_1043insT stands out, since it was described only in Argentina and is present in about 40% of genetically diagnosed families. Thus, we hypothesized the possible existence of a common ancestor for the mutation in our population. <b><i>Methods:</i></b> We conducted a study based on microsatellite (short tandem repeats) haplotypes. <b><i>Results:</i></b> We found a common haplotype in all of the patients carrying the common mutation. The age of the mutation was estimated to be about 375 years. <b><i>Conclusion:</i></b> There is a recent founder effect in our population for this particular genetic alteration in variegate porphyria.

Country
Argentina
Keywords

Argentina, Founder Effect, Pedigree, Haplotype Analysis, Variegate Porphyria, Haplotypes, https://purl.org/becyt/ford/1.6, Mutation, Humans, Porphyria, Variegate, https://purl.org/becyt/ford/1, Short Tandem Repeat, Microsatellite Repeats

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
3
Average
Average
Average
Green