Article
[Genotype-phenotype correlation in a sample of Mexican patients with cystic fibrosis].
Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion - 1 Jan 2000
Yokoyama Emiy, Lezana José Luis, Vigueras-Villaseñor Rosa María, Rojas-Castañeda Julio, Saldaña-Álvarez Yolanda, Orozco Lorena, Chávez-Saldaña Margarita
Abstract excerpt
INTRODUCTION: Cystic fibrosis is a lethal autosomal recessive disease, commonly seen in Caucasian population. The World Health Organization (WHO) estimated that in Mexico, the incidence is approximately 1 per 8,500 live births. Defects in CFTR (cystic fibrosis transmembrane conductance regulator) protein are responsible for alterations in the transport of chloride in the apical membrane of exocrine epithelial...
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