Cystic Fibrosis is an an autosomal recessive inherited disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. This gene codes for a protein which is an ion transport protein in the epithelial surfaces of lungs, pancreas, liver, intestines, sweat ducts and vas deferens. The article describes and discusses prenatal, pre-conception and pre-implantation mutation analysis of the CFTR gene.

Cystic Fibrosis: Pre-conception and antenatal tests [Fibrosi cistica: Analisi preconcezionale e prenatale]

CASTELLANI, CARLO;
2010

Abstract

Cystic Fibrosis is an an autosomal recessive inherited disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. This gene codes for a protein which is an ion transport protein in the epithelial surfaces of lungs, pancreas, liver, intestines, sweat ducts and vas deferens. The article describes and discusses prenatal, pre-conception and pre-implantation mutation analysis of the CFTR gene.
transmembrane conductance regulator; cystic fibrosis, denaturing gradient gel electrophoresis, dot hybridization, gene mutation, genetic analysis, high performance liquid chromatography, human, implantation, maternal care, prenatal care, review
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11562/389077
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