Article
CFTR allelic heterogeneity in Mexican patients with cystic fibrosis: implications for molecular screening.
Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion - 1 Jan 2000
Chávez-Saldaña Margarita, Yokoyama Emiy, Lezana José Luis, Carnevale Alessandra, Macías Miguel, Vigueras Rosa M, López Marisol, Orozco Lorena
Abstract excerpt
INTRODUCTION: Cystic fibrosis, the most common autosomal recessive disorder, is caused by defects in the CF transmembrane conductance regulator gene (CFTR) that encodes a chloride channel. To date, over 1,800 mutations have been described related to the causative gene of CF, showing a variable frequency among populations. In a previous extensive analysis of the CFTR locus in 97 Mexican patients, 34 different...
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