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...

Full description

Saved in:
Bibliographic Details
Main Authors: Polizzi, Angela, Tesse, Riccardina, Santostasi, Teresa, Diana, Anna, Manca, Antonio, Logrillo, Vito Paolo, Cazzato, Maria Domenica, Pantaleo, Maria Giuseppa, Armenio, Lucio
Format: Artigo
Language:Inglês
Published: Sociedade Brasileira de Genética 2011
Subjects:
Human and Medical Genetics
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3168180/
https://ncbi.nlm.nih.gov/pubmed/21931512
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1590/S1415-47572011000300008
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items