Identification of a novel large deletion and other copy number variations in the CFTR gene in patients with Cystic Fibrosis from a multiethnic population

ConclusionOur results highlight the importance of screening for large rearrangements in CF cases with no or only oneCFTR mutation defined.

Source: Molecular Genetics & Genomic Medicine - June 13, 2019 Category: Genetics & Stem Cells Authors: Raisa da Silva Martins, Mario Campos Junior, Aline dos Santos Moreira, Ver ônica Marques Zembrzuski, Ana Carolina Proença da Fonseca, Gabriella de Medeiros Abreu, Pedro Hernan Cabello, Giselda Maria Kalil de Cabello Tags: ORIGINAL ARTICLE Source Type: research