Prenatal diagnosis in a cystic fibrosis family: a combined molecular strategy for a precise diagnosis.


INTRODUCTION The high genetic heterogeneity in populations with a wide spectrum of mutations in the CF transmembrane conductance regulator gene (CFTR), makes the detection of mutations a very hard and difficult task, thereby limiting the accurate diagnosis of the disease, mainly in patients with uncharacterized mutations. MATERIAL AND METHODS Molecular… (More)


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