(Q71646276)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7521937%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7521937%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

A Novel Mutation in the Cystic Fibrosis Gene in Patients with Pulmonary Disease but Normal Sweat Chloride Concentrations (English)

1 reference

https://api.crossref.org/works/10.1056/NEJM199410133311503

15 May 2024

1 reference

W. E. Highsmith

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7521937

15 May 2024

L. H. Burch

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7521937

15 May 2024

Z. Zhou

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7521937

15 May 2024

J. C. Olsen

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7521937

15 May 2024

T. E. Boat

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7521937

15 May 2024

A. Spock

6

1 reference

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15 May 2024

J. D. Gorvoy

7

1 reference

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15 May 2024

L. Quittel

8

1 reference

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15 May 2024

K. J. Friedman

9

1 reference

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15 May 2024

L. M. Silverman

10

1 reference

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15 May 2024

language of work or name

English

0 references

publication date

1 October 1994

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7521937%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

13 October 1994

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=7521937

The New England Journal of Medicine

15 May 2024

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7521937%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

volume

331

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7521937%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

issue

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7521937%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

page(s)

974-980

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7521937%20AND%20SRC:MED&resulttype=core&format=json

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

20 October 2019

cites work

1

1 reference

https://api.crossref.org/works/10.1056/NEJM199410133311503

Identification of the cystic fibrosis gene: genetic analysis

15 May 2024

2

1 reference

https://api.crossref.org/works/10.1056/NEJM199410133311503

Cystic fibrosis: molecular biology and therapeutic implications

15 May 2024

3

1 reference

https://api.crossref.org/works/10.1056/NEJM199410133311503

Demonstration That CFTR Is a Chloride Channel by Alteration of Its Anion Selectivity

15 May 2024

4

1 reference

https://api.crossref.org/works/10.1056/NEJM199410133311503

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

15 May 2024

5

1 reference

https://api.crossref.org/works/10.1056/NEJM199410133311503

Sweat chloride concentration in adults with pulmonary diseases

15 May 2024

8

1 reference

https://api.crossref.org/works/10.1056/NEJM199410133311503

Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

15 May 2024

10

1 reference

https://api.crossref.org/works/10.1056/NEJM199410133311503

The American Review of Respiratory Disease

15 May 2024

11

124

484

Knowles MR

1981

1 reference

https://api.crossref.org/works/10.1056/NEJM199410133311503

Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus

15 May 2024

12

1 reference

https://api.crossref.org/works/10.1056/NEJM199410133311503

Expression of the cystic fibrosis transmembrane conductance regulator gene in the respiratory tract of normal individuals and individuals with cystic fibrosis

15 May 2024

13

1 reference

https://api.crossref.org/works/10.1056/NEJM199410133311503

Isolation and characterization of full-length cDNA clones for human alpha-, beta-, and gamma-actin mRNAs: skeletal but not cytoplasmic actins have an amino-terminal cysteine that is subsequently removed

15 May 2024

14

1 reference

https://api.crossref.org/works/10.1056/NEJM199410133311503

Nucleotide sequence of the human gamma cytoskeletal actin mRNA: anomalous evolution of vertebrate non-muscle actin genes

15 May 2024

15

1 reference

https://api.crossref.org/works/10.1056/NEJM199410133311503

Experience with new DNA markers for the diagnosis of cystic fibrosis

15 May 2024

16

1 reference

https://api.crossref.org/works/10.1056/NEJM199410133311503

Intra- and extragenic marker haplotypes of CFTR mutations in cystic fibrosis families

15 May 2024

17

1 reference

https://api.crossref.org/works/10.1056/NEJM199410133311503

Higher bioelectric potentials due to decreased chloride absorption in the sweat glands of patients with cystic fibrosis

15 May 2024

18

1 reference

https://api.crossref.org/works/10.1056/NEJM199410133311503

Influence of abnormal Cl- impermeability on sweating in cystic fibrosis

15 May 2024

19

1 reference

https://api.crossref.org/works/10.1056/NEJM199410133311503

Defective beta adrenergic response of cystic fibrosis sweat glands in vivo and in vitro

15 May 2024

20

1 reference

https://api.crossref.org/works/10.1056/NEJM199410133311503

Cystic fibrosis gene mutation in two sisters with mild disease and normal sweat electrolyte levels

15 May 2024

22

1 reference

https://api.crossref.org/works/10.1056/NEJM199410133311503

Increased bioelectric potential difference across respiratory epithelia in cystic fibrosis

15 May 2024

23

1 reference

https://api.crossref.org/works/10.1056/NEJM199410133311503

Relative ion permeability of normal and cystic fibrosis nasal epithelium

15 May 2024

24

1 reference

https://api.crossref.org/works/10.1056/NEJM199410133311503

15 May 2024

25

31

858A

Knowles M

1983

1 reference

https://api.crossref.org/works/10.1056/NEJM199410133311503

Low sweat electrolytes in a patient with cystic fibrosis

15 May 2024

26

1 reference

https://api.crossref.org/works/10.1056/NEJM199410133311503

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

15 May 2024

27

1 reference

https://api.crossref.org/works/10.1056/NEJM199410133311503

Intermediate-range sweat chloride concentration and Pseudomonas bronchitis. A cystic fibrosis variant with preservation of exocrine pancreatic function

15 May 2024

29

1 reference

https://api.crossref.org/works/10.1056/NEJM199410133311503

The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions

15 May 2024

30

1 reference

https://api.crossref.org/works/10.1056/NEJM199410133311503

15 May 2024

Why genes in pieces?

31

1 reference

https://api.crossref.org/works/10.1056/NEJM199410133311503

beta-Thalassemia in Chinese: use of in vivo RNA analysis and oligonucleotide hybridization in systematic characterization of molecular defects

15 May 2024

32

1 reference

https://api.crossref.org/works/10.1056/NEJM199410133311503

Extensive posttranscriptional deletion of the coding sequences for part of nucleotide-binding fold 1 in respiratory epithelial mRNA transcripts of the cystic fibrosis transmembrane conductance regulator gene is not associated with the clinical manif

15 May 2024

33

1 reference

https://api.crossref.org/works/10.1056/NEJM199410133311503

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

15 May 2024

35

1 reference

https://api.crossref.org/works/10.1056/NEJM199410133311503

Mild cystic fibrosis and normal or borderline sweat test in patients with the 3849 + 10 kb C-->T mutation

15 May 2024

38

1 reference

https://api.crossref.org/works/10.1056/NEJM199410133311503

15 May 2024

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7521937%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

1 reference