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Article

Functional associations of genetic variants involved in the clinical manifestation of erythropoietic protoporphyria in the Argentinean population.

Journal of the European Academy of Dermatology and Venereology : JEADV - 1 Jun 2013

Colombo F P, Rossetti M V, Méndez M, Martínez J E, Enríquez de Salamanca R, del C Batlle A M, Parera V E

Abstract excerpt

BACKGROUND: Combined inheritance of genetic variants in ferrochelatase gene (FECH) are implicated in clinical manifestation of Erythropoietic Protoporphyria (EPP). OBJECTIVE: Identify the genetic variants in FECH gene and their associations in the expression of EPP in Argentina. Determine the allelic frequency of polymorphic variants, associations in cis and its linkage disequilibrium. METHODS: The FECH gene was...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22591014
DOI: 10.1111/j.1468-3083.2012.04566.x

Genes

FECH

Variants

Provenance

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Functional associations of genetic variants involved in the clinical manifestation of erythropoietic protoporphyria in the Argentinean population.PMID 22591014Read ↗

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