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Haplotype Study in Argentinean Variegate Porphyria Patients.

Human heredity - 1 Jan 2015

Granata Bárbara Xoana, Parera Victoria Estela, Batlle Alcira, Rossetti María Victoria

Abstract excerpt

BACKGROUND/AIMS: 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...

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PMID: 27216491
DOI: 10.1159/000445749

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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