2009
DOI: 10.2119/molmed.2009.00006
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Novel Null-Allele Mutations and Genotype-Phenotype Correlation in Argentinean Patients with Erythropoietic Protoporphyria

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Cited by 3 publications
(12 citation statements)
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“…In this work, we have studied 11 novel EPP families by molecular techniques and reported three new FECH gene mutations comprising approximately 50% (17/36) of Argentinean EPP families considering previous studies 23,42 . The estimated prevalence of EPP in Argentina corresponding to the last census of 2010 is about 1 : 900 000.…”
Section: Discussionmentioning
confidence: 90%
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“…In this work, we have studied 11 novel EPP families by molecular techniques and reported three new FECH gene mutations comprising approximately 50% (17/36) of Argentinean EPP families considering previous studies 23,42 . The estimated prevalence of EPP in Argentina corresponding to the last census of 2010 is about 1 : 900 000.…”
Section: Discussionmentioning
confidence: 90%
“…The promoter and exons, including the flanking intronic regions of the FECH gene (GenBank accession number ) were amplified by polymerase chain reaction (PCR) as described by Parera et al. 42 The PCR was carried out in a PTC‐100 Peltier Thermal Cycler (MJ. Research.…”
Section: Methodsmentioning
confidence: 99%
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“…58 In a study on EPP in the Argentinean population, all six patients carried null allele mutations and none had liver involvement. 7 A study of molecular epidemiology of EPP in the UK was published in 2010, which involved a total of 179 patients. 12 Among them, 169 patients had the dominant form of EPP as showed by the genetic analysis.…”
Section: Genotype-phenotype Correlation In Eppmentioning
confidence: 99%