mRNA‐based detection of rare CFTR mutations improves genetic diagnosis of cystic fibrosis in populations with high genetic heterogeneity
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DOI: 10.1111/cge.12802
Abstract: Even with advent of next generation sequencing complete sequencing of large disease‐associated genes and intronic regions is economically not feasible. This is the case of cystic fibrosis transmembrane conductance regulator (CFTR), the gene responsible for… read more here.
Keywords: cystic fibrosis; diagnosis; cftr; populations high ... See more keywords