Heterogeneity in the severity of cystic fibrosis and the role of CFTR gene mutations (Q40388399)

20 September 2017

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title

Heterogeneity in the severity of cystic fibrosis and the role of CFTR gene mutations (English)

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20 September 2017

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M Dean

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20 September 2017

G Santis

series ordinal

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20 September 2017

publication date

1 April 1994

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20 September 2017

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20 September 2017

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20 September 2017

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20 September 2017

page(s)

364-368

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Severity of cystic fibrosis in patients homozygous and heterozygous for ΔF508 mutation

20 September 2017

cites work

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12 December 2020

Direct evidence for the contribution of the unique I-ANOD to the development of insulitis in non-obese diabetic mice

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12 December 2020

Genetic determinants of airways' colonisation with Pseudomonas aeruginosa in cystic fibrosis

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Identification of the cystic fibrosis gene: chromosome walking and jumping

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Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe disease

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

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12 December 2020

Worldwide survey of the delta F508 mutation--report from the cystic fibrosis genetic analysis consortium

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12 December 2020

Genetic determination of exocrine pancreatic function in cystic fibrosis

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12 December 2020

Endocrine and exocrine pancreatic function and the delta F508 mutation in cystic fibrosis

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12 December 2020

Processing of mutant cystic fibrosis transmembrane conductance regulator is temperature-sensitive

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12 December 2020

High frequency of the R117H cystic fibrosis mutation in patients with congenital absence of the vas deferens

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12 December 2020

Risks of alternate-day prednisone in patients with cystic fibrosis

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12 December 2020

Molecular basis for mild forms of homozygous beta-thalassaemia

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12 December 2020

The spectrum of cystic fibrosis mutations

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12 December 2020

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

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12 December 2020

Independent genetic determinants of pancreatic and pulmonary status in cystic fibrosis

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12 December 2020

Defective epithelial chloride transport in a gene-targeted mouse model of cystic fibrosis

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12 December 2020

HLA DR antigens and susceptibility to insulin-dependent diabetes mellitus

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12 December 2020

Diabetes mellitus in cystic fibrosis: genetic and immunological markers.

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12 December 2020

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

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12 December 2020

Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis

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12 December 2020

Autosomal recessive hereditary congenital aplasia of the vasa deferentia in four siblings.

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12 December 2020

Volume-regulated chloride channels associated with the human multidrug-resistance P-glycoprotein

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Genetic influences on pulmonary severity in cystic fibrosis.

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12 December 2020

Genetic control of autoimmunity in type 1 diabetes

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12 December 2020

Lung involvement, the delta F508 mutation and DNA haplotype analysis in cystic fibrosis

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12 December 2020

HLA-DQ beta gene contributes to susceptibility and resistance to insulin-dependent diabetes mellitus

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12 December 2020

Haplotypes in cystic fibrosis patients with or without pancreatic insufficiency from four European populations.

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12 December 2020

Maturation and function of cystic fibrosis transmembrane conductance regulator variants bearing mutations in putative nucleotide-binding domains 1 and 2

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12 December 2020

Linked marker haplotypes and the delta F508 mutation in adults with mild pulmonary disease and cystic fibrosis

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12 December 2020

An animal model for cystic fibrosis made by gene targeting

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12 December 2020

Identification of the cystic fibrosis gene: genetic analysis

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12 December 2020

The relation between genotype and phenotype in cystic fibrosis--analysis of the most common mutation (delta F508).

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12 December 2020

Reproductive Failure in Males with Cystic Fibrosis

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12 December 2020

Calcium and cAMP activate different chloride channels in the apical membrane of normal and cystic fibrosis epithelia

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12 December 2020

A combination of HLA-DQ beta Asp57-negative and HLA DQ alpha Arg52 confers susceptibility to insulin-dependent diabetes mellitus

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12 December 2020

Familial concordance of pancreatic function in cystic fibrosis

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12 December 2020

Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients

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12 December 2020

DNA marker haplotype association with pancreatic sufficiency in cystic fibrosis

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12 December 2020

Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis

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12 December 2020

Abnormal distribution of CF delta F508 allele in azoospermic men with congenital aplasia of epididymis and vas deferens

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12 December 2020

Diabetes mellitus and cystic fibrosis

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12 December 2020

Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis

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12 December 2020

Identifiers

DOI

10.1007/BF00201659

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Dimensions Publication ID

20 September 2017

1032255083

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