Výsledky vyhledávání - "Lodercio Culpi"

Incidence of cystic fibrosis in five different states of Brazil as determined by screening of p.F508del, mutation at the CFTR gene in newborns and patients

Autor: Norberto Ludwig, Eurico Camargo Neto, Ranajit Chakraborty, Roberto Giugliani, Fernando Abreu, Eduardo Lewis, Lodercio Culpi, Lairton Valentin, Salmo Raskin, Lilian Pereira-Ferrari, John Atlas Phillip, Edna Maria de Albuquerque Diniz, Francisco J.C. Reis, Tatiana Rozov, Nelson Augusto Rosario-Filho, Paulo José Cauduro Marostica, Joselina Magalhaes Andrade Cardieri

Publikováno v: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP

Cystic Fibrosis (CF) is one of the most common single-gene defects in European descent populations with an incidence of about 1 in every 2500 live births and carrier frequency of approximately 1 in 25. The most common mutation at the CF transmembrane

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4fb68dc8109604802a663fdf022ea96
https://doi.org/10.1016/j.jcf.2007.03.006

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High Allelic Heterogeneity Between Afro-Brazilians and Euro-Brazilians Impacts Cystic Fibrosis Genetic Testing

Autor: Ruth A. Heim, Lodercio Culpi, Nelson Rosario, Lairton Valentim, Bernice Allito, John A. Phillips, Norberto Ludwig, Salmo Raskin, Elaine A Sugarman, Fabio R. Faucz, Francisco J.C. Reis, Christian M. Probst, Lilian Pereira

Publikováno v: Genetic Testing. 7:213-218

Cystic fibrosis (CF) is an autosomal recessive disease caused by at least 1,000 different mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR). To determine the frequency of 70 common worldwide CFTR mutations in 155 Euro-B

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::edd99440487947ea29102c0bd23d902a
https://doi.org/10.1089/109065703322537223

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Akademický článek

High Allelic Heterogeneity Between Afro-Brazilians and Euro-Brazilians Impacts Cystic Fibrosis Genetic Testing.

Autor: Salmo Raskin, Lilian Pereira, Francisco Reis, Nelson A. Rosario, Norberto Ludwig, Lairton Valentim, John A. Phillips, Bernice Allito, Ruth A. Heim, Elaine A. Sugarman, Christian M. Probst, Fabio Faucz, Lodercio Culpi

Publikováno v: Genetic Testing; 9/01/2003, Vol. 7 Issue 3, p213-218, 6p

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