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Genotype-phenotype correlation in cystic fibrosis patients bearing [H939R;H949L] allele

By Angela Polizzi, Riccardina Tesse, Teresa Santostasi, Anna Diana, Antonio Manca, Vito Paolo Logrillo, Maria Domenica Cazzato, Maria Giuseppa Pantaleo and Lucio Armenio


Cystic fibrosis (CF) is caused by CFTR (cystic fibrosis transmembrane conductance regulator) gene mutations. We ascertained five patients with a novel complex CFTR allele, with two mutations, H939R and H949L, inherited in cis in the same exon of CFTR gene, and one different mutation per patient inherited in trans in a wide population of 289 Caucasian CF subjects from South Italy. The genotype-phenotype relationship in patients bearing this complex allele was investigated. The two associated mutations were related to classical severe CF phenotypes

Topics: CFTR, complex allele, cystic fibrosis, phenotype
Publisher: Sociedade Brasileira de Genética
Year: 2011
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