Correlation of sweat chloride concentration with classes of the cystic fibrosis transmembrane conductance regulator gene mutations (Q71512414)

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19 October 2019

title

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

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19 October 2019

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M Wilschanski

1

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19 October 2019

J Zielenski

2

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19 October 2019

D Markiewicz

3

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19 October 2019

L C Tsui

4

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19 October 2019

M Corey

5

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19 October 2019

H Levison

6

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19 October 2019

P R Durie

7

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19 October 2019

language of work or name

English

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publication date

1 November 1995

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The Journal of Pediatrics

19 October 2019

published in

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19 October 2019

volume

127

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19 October 2019

page(s)

705-710

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19 October 2019

issue

5

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Identification of the cystic fibrosis gene: chromosome walking and jumping

19 October 2019

cites work

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

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Purification and functional reconstitution of the cystic fibrosis transmembrane conductance regulator (CFTR)

7 January 2021

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Generation of cAMP-Activated Chloride Currents by Expression of CFTR

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Improved respiratory prognosis in patients with cystic fibrosis with normal fat absorption

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Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis

7 January 2021

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Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

7 January 2021

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Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

7 January 2021

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The cystic fibrosis mutation (delta F508) does not influence the chloride channel activity of CFTR.

7 January 2021

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

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

7 January 2021

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A mutation in CFTR produces different phenotypes depending on chromosomal background

7 January 2021

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

7 January 2021

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Correlation between genotype and phenotype in patients with cystic fibrosis

7 January 2021

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Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: A report from the cystic fibrosis genetic analysis consortium

7 January 2021

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Population variation of common cystic fibrosis mutations. The Cystic Fibrosis Genetic Analysis Consortium

7 January 2021

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10.1016/S0022-3476(95)70157-5

7 January 2021

Identifiers

DOI

1 reference

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19 October 2019

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