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

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

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 inhe...

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Bibliographic Details
Main Authors: Angela Polizzi, Riccardina Tesse, Teresa Santostasi, Anna Diana, Antonio Manca, Vito Paolo Logrillo, Maria Domenica Cazzato, Maria Giuseppa Pantaleo, Lucio Armenio
Format: Article
Language:English
Published: Sociedade Brasileira de Genética 2011-01-01
Series:Genetics and Molecular Biology
Subjects:
CFTR
complex allele
cystic fibrosis
phenotype
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572011000300008

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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572011000300008

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