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Genotype–phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR...

Genotype–phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1888978992

Genotype–phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex alleles

About this item

Full title

Genotype–phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex alleles

Publisher

England: BMJ Publishing Group LTD

Journal title

Journal of medical genetics, 2017-04, Vol.54 (4), p.224-235

Language

English

Formats

Publication information

Publisher

England: BMJ Publishing Group LTD

More information

Scope and Contents

Contents

BackgroundThe effect of complex alleles in cystic fibrosis (CF) is poorly defined for the lack of functional studies.ObjectivesTo describe the genotype–phenotype correlation and the results of either in vitro and ex vivo studies performed on nasal epithelial cells (NEC) in a cohort of patients with CF carrying cystic fibrosis transmembrane conducta...

Alternative Titles

Full title

Genotype–phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex alleles

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_miscellaneous_1888978992

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1888978992

Other Identifiers

ISSN

0022-2593

E-ISSN

1468-6244

DOI

10.1136/jmedgenet-2016-103985

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