(Q57304739)

English

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

scientific article published on 01 March 1995

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scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7868128%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

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 (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7868128%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

cystic fibrosis

1 reference

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inferred from title

Xavier Estivill i Pallejà

1

1 reference

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27 October 2019

Javier Pérez-Frías

3

1 reference

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27 October 2019

author name string

L Ortigosa

2

1 reference

Europe PubMed Central

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27 October 2019

J Dapena

4

1 reference

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27 October 2019

J Ferrer

5

1 reference

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27 October 2019

L Peña

6

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27 October 2019

L Peña

7

1 reference

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27 October 2019

R Llevadot

8

1 reference

Europe PubMed Central

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27 October 2019

J Giménez

9

1 reference

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27 October 2019

V Nunes

10

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27 October 2019

publication date

1 March 1995

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27 October 2019

1 reference

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27 October 2019

95

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27 October 2019

3

1 reference

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27 October 2019

331-336

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27 October 2019

https://scigraph.springernature.com/pub.10.1007/bf00225203

0 references

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7868128

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cystic fibrosis patients bearing both the common missense mutation Gly----Asp at codon 551 and the delta F508 mutation are clinically indistinguishable from delta F508 homozygotes, except for decreased risk of meconium ileus

1 reference

https://pubmed.ncbi.nlm.nih.gov/7868128

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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/7868128

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7868128

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Correlation between genotype and phenotype in patients with cystic fibrosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/7868128

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7868128

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The search for south European cystic fibrosis mutations: identification of two new mutations, four variants, and intronic sequences.

1 reference

https://pubmed.ncbi.nlm.nih.gov/7868128

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Expression of the cystic fibrosis gene in non-epithelial invertebrate cells produces a regulated anion conductance

1 reference

https://pubmed.ncbi.nlm.nih.gov/7868128

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of the CFTR gene confirms the high genetic heterogeneity of the Spanish population: 43 mutations account for only 78% of CF chromosomes

1 reference

https://pubmed.ncbi.nlm.nih.gov/7868128

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/7868128

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multiplex PCR amplification of three microsatellites within the CFTR gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/7868128

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic determination of exocrine pancreatic function in cystic fibrosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/7868128

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pancreatic function and gene deletion F508 in cystic fibrosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/7868128

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Expression and characterization of the cystic fibrosis transmembrane conductance regulator.

1 reference

https://pubmed.ncbi.nlm.nih.gov/7868128

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The spectrum of cystic fibrosis mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/7868128

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Independent genetic determinants of pancreatic and pulmonary status in cystic fibrosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/7868128

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7868128

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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://pubmed.ncbi.nlm.nih.gov/7868128

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation analysis in 600 French cystic fibrosis patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/7868128

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7868128

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Independent origins of cystic fibrosis mutations R334W, R347P, R1162X, and 3849 + 10kbC-->T provide evidence of mutation recurrence in the CFTR gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/7868128

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7868128

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Generation of cAMP-Activated Chloride Currents by Expression of CFTR

1 reference

https://pubmed.ncbi.nlm.nih.gov/7868128

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Microsatellite haplotypes for cystic fibrosis: mutation frameworks and evolutionary tracers.

1 reference

https://pubmed.ncbi.nlm.nih.gov/7868128

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cystic fibrosis patients with mutation 1949del84 in exon 13 of the CFTR gene have a similar clinical severity as ΔF508 homozygotes

1 reference

https://pubmed.ncbi.nlm.nih.gov/7868128

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of the cystic fibrosis gene: genetic analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/7868128

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genotype/phenotype association in cystic fibrosis: analyses of the delta F508, R553X, and 3905insT mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/7868128

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7868128

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of the CFTR gene in the Spanish population: SSCP-screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812-1 G→A, and 3667de14)

1 reference

https://pubmed.ncbi.nlm.nih.gov/7868128

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7868128

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/7868128

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7868128

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cystic fibrosis: relationship between clinical status and F508 deletion

1 reference

https://pubmed.ncbi.nlm.nih.gov/7868128

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7868128

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7868128

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00225203

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7868128%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7868128%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

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