Complexity in a monogenic disease (Q57304723)

https://api.crossref.org/works/10.1038%2FNG0496-348

Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-348

Cystic fibrosis in the mouse by targeted insertional mutagenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-348

Generation and characterization of a delta F508 cystic fibrosis mouse model.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-348

Mutations in CFTR associated with mild-disease-form Cl- channels with altered pore properties.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-348

Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-348

Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-348

Smith-Lemli-Opitz syndrome: prenatal diagnosis by quantification of cholesterol precursors in amniotic fluid.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-348

Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-348

7 January 2021

Identification of the cystic fibrosis gene: genetic analysis

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-348

7 January 2021

Production of a severe cystic fibrosis mutation in mice by gene targeting

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-348

7 January 2021

An animal model for cystic fibrosis made by gene targeting

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-348

7 January 2021

A severe phenotype in mice with a duplication of exon 3 in the cystic fibrosis locus.

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-348

7 January 2021

Lung disease in the cystic fibrosis mouse exposed to bacterial pathogens

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-348

7 January 2021

A new missense mutation (E92K) in the first transmembrane domain of the CFTR gene causes a benign cystic fibrosis phenotype

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-348

7 January 2021

Correlation of sweat chloride concentration with classes of the cystic fibrosis transmembrane conductance regulator gene mutations

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-348

7 January 2021

A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-348

7 January 2021

Two patients with cystic fibrosis, nonsense mutations in each cystic fibrosis gene, and mild pulmonary disease

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-348

7 January 2021

Nine cystic fibrosis patients homozygous for the CFTR nonsense mutation R1162X have mild or moderate lung disease

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-348

7 January 2021

Cystic fibrosis transmembrane conductance regulator and obstructive azoospermia

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-348

7 January 2021

Clinical characteristics of 16 cystic fibrosis patients with the missense mutation R334W, a pancreatic insufficiency mutation with variable age of onset and interfamilial clinical differences

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-348

7 January 2021

Cystic fibrosis with three mutations in the cystic fibrosis transmembrane conductance regulator gene

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-348

7 January 2021

A mutation in CFTR produces different phenotypes depending on chromosomal background

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-348

7 January 2021