(Q33677876)

English

Thirteen cystic fibrosis patients, 12 compound heterozygous and one homozygous for the missense mutation G85E: a pancreatic sufficiency/insufficiency mutation with variable clinical presentation

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scholarly article

1 reference

Europe PubMed Central

28 July 2017

Thirteen cystic fibrosis patients, 12 compound heterozygous and one homozygous for the missense mutation G85E: a pancreatic sufficiency/insufficiency mutation with variable clinical presentation (English)

1 reference

Europe PubMed Central

28 July 2017

cystic fibrosis

0 references

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

Xavier Estivill i Pallejà

10

1 reference

Europe PubMed Central

28 July 2017

author name string

Vazquez C

1

1 reference

Europe PubMed Central

28 July 2017

Antiñolo G

2

1 reference

Europe PubMed Central

28 July 2017

Casals T

3

1 reference

Europe PubMed Central

28 July 2017

Dapena J

4

1 reference

Europe PubMed Central

28 July 2017

Elorz J

5

1 reference

Europe PubMed Central

28 July 2017

Seculi JL

6

1 reference

Europe PubMed Central

28 July 2017

Sirvent J

7

1 reference

Europe PubMed Central

28 July 2017

Cabanas R

8

1 reference

Europe PubMed Central

28 July 2017

Soler C

9

1 reference

Europe PubMed Central

28 July 2017

language of work or name

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publication date

1 October 1996

1 reference

Europe PubMed Central

28 July 2017

Journal of Medical Genetics

1 reference

Europe PubMed Central

28 July 2017

33

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Europe PubMed Central

28 July 2017

10

1 reference

Europe PubMed Central

28 July 2017

820-822

1 reference

Europe PubMed Central

28 July 2017

Biochemical tests in the diagnosis of chronic pancreatitis and in the evaluation of pancreatic insufficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050759

14 July 2018

Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050759

14 July 2018

Mild cystic fibrosis phenotype in patients with the 3272-26A > G mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050759

14 July 2018

Identification of the cystic fibrosis gene: genetic analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050759

14 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050759

14 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050759

14 July 2018

A cystic fibrosis patient who is homozygous for the G85E mutation has very mild disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050759

14 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050759

14 July 2018

Regulation by ATP and ADP of CFTR chloride channels that contain mutant nucleotide-binding domains

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050759

14 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050759

30 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050759

30 October 2018

Identification of a new missense mutation (P205S) in the first transmembrane domain of the CFTR gene associated with a mild cystic fibrosis phenotype.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050759

30 October 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8933333

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8933333

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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://pubmed.ncbi.nlm.nih.gov/8933333

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of the complete coding region of the CFTR gene in a cohort of CF patients from north-eastern Italy: identification of 90% of the mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/8933333

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

L206W mutation of the cystic fibrosis gene, relatively frequent in French Canadians, is associated with atypical presentations of cystic fibrosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/8933333

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8933333

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions

1 reference

https://pubmed.ncbi.nlm.nih.gov/8933333

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.33.10.820

1 reference

https://api.fatcat.wiki/v0/release/6rntqlavyvb3dgknnrm6pr4vqa

30 July 2022

based on heuristic

mapped directly with Wikidata item

release_6rntqlavyvb3dgknnrm6pr4vqa

1 reference

https://api.fatcat.wiki/v0/release/6rntqlavyvb3dgknnrm6pr4vqa

30 July 2022

based on heuristic

mapped directly with Wikidata item

1 reference

https://api.fatcat.wiki/v0/release/6rntqlavyvb3dgknnrm6pr4vqa

30 July 2022

based on heuristic

mapped directly with Wikidata item

1 reference

https://api.fatcat.wiki/v0/release/6rntqlavyvb3dgknnrm6pr4vqa

30 July 2022

based on heuristic

mapped directly with Wikidata item

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