Genotype–phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex alleles

It is more and more frequent the detection of CFTR mutations for which it lacks a clear and univocal interpretation. This is particularly true for complex alleles (i.e., more mutations on the same allele). We describe genotype-phenotype correlations in a large number of Cystic Fibrosis patients, carrying different CFTR complex alleles and suggest a poorly invasive tool that may help to predict the clinical severity of the disease. (By Dr. Vito Terlizzi, http://jmg.bmj.com/content/early/2016/10/13/jmedgenet-2016-103985 )

 

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Dr. Vito Terlizzi

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Prof Castaldo and his group

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