Literature DB >> 10502783

The DeltaF508 mutation in Ecuador, South America.

C Paz-y-Miño1, J C Pérez, R Burgos, M V Dávalos, P E Leone.   

Abstract

There are few reports about the incidence of the DeltaF508 mutation in Latin American countries. We show the study of the DeltaF508 mutation and the seven most common "European" mutations in 10 Ecuadorian CF affecteds. The incidence of DeltaF508 mutation found was 25% and none of the other seven was detected in our population, which indicates that at least 60% of the mutations in the studied population are different from most common in Europe. Similar data have been reported in other Amerindian populations, therefore it is suggested that Cystic Fibrosis in Ecuador-and other Amerindian countries in Latin America-have a different ethiology than that of Caucasian populations. Copyright 1999 Wiley-Liss, Inc.

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Year:  1999        PMID: 10502783     DOI: 10.1002/(SICI)1098-1004(199910)14:4<348::AID-HUMU11>3.0.CO;2-8

Source DB:  PubMed          Journal:  Hum Mutat        ISSN: 1059-7794            Impact factor:   4.878


  3 in total

1.  Genetics and genomic medicine in Ecuador.

Authors:  César Paz-Y-Miño; María J Guillen Sacoto; Paola E Leone
Journal:  Mol Genet Genomic Med       Date:  2015-12-21       Impact factor: 2.183

2.  Characterization of Ancestral Origin of Cystic Fibrosis of Patients with New Reported Mutations in CFTR.

Authors:  César Paz-Y-Miño; Ana Karina Zambrano; Juan Carlos Ruiz-Cabezas; Isaac Armendáriz-Castillo; Jennyfer M García-Cárdenas; Santiago Guerrero; Andrés López-Cortés; Andy Pérez-Villa; Patricia Guevara-Ramírez; Verónica Yumiceba; Paola E Leone
Journal:  Biomed Res Int       Date:  2020-05-29       Impact factor: 3.411

3.  Standardized clinical criteria and sweat test combined as a tool to diagnose Cystic Fibrosis.

Authors:  Fabricio González-Andrade
Journal:  Heliyon       Date:  2018-12-17
  3 in total

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