(Q57304780)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8454290%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

title

Cystic fibrosis in Spain: high frequency of mutation G542X in the Mediterranean coastal area (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8454290%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

1 reference

1 reference

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8454290%20AND%20SRC:MED&resulttype=core&format=json

Xavier Estivill i Pallejà

12 October 2019

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8454290%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

author name string

T Casals

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8454290%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

V Nunes

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8454290%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

A Palacio

3

1 reference

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12 October 2019

J Giménez

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8454290%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

A Gaona

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8454290%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

N Ibáñez

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8454290%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

publication date

1 March 1993

1 reference

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12 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8454290%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

volume

91

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8454290%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8454290%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

page(s)

66-70

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8454290%20AND%20SRC:MED&resulttype=core&format=json

Identification of the cystic fibrosis gene: chromosome walking and jumping

12 October 2019

cites work

1 reference

12 December 2020

A child, homozygous for a stop codon in exon 11, shows milder cystic fibrosis symptoms than her heterozygous nephew

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

CA/GT microsatellite alleles within the cystic fibrosis transmembrane conductance regulator (CFTR) gene are not generated by unequal crossingover

1 reference

12 December 2020

Modification of enzymatically amplified DNA for the detection of point mutations.

1 reference

12 December 2020

Restriction site generating-polymerase chain reaction (RG-PCR) for the probeless detection of hidden genetic variation: application to the study of some common cystic fibrosis mutations

1 reference

12 December 2020

Prenatal diagnosis of cystic fibrosis by multiplex PCR of mutation and microsatellite alleles

1 reference

12 December 2020

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

1 reference

12 December 2020

A cluster of highly polymorphic dinucleotide repeats in intron 17b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

1 reference

12 December 2020

Mutation and linkage disequilibrium analysis in genetic counselling of Spanish cystic fibrosis families

1 reference

12 December 2020

Gradient of distribution in Europe of the major CF mutation and of its associated haplotype. European Working Group on CF Genetics (EWGCFG)

1 reference

12 December 2020

ΔF508 GENE DELETION IN CYSTIC FIBROSIS IN SOUTHERN EUROPE

1 reference

12 December 2020

A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein

1 reference

12 December 2020

Cystic fibrosis in the Basque country: high frequency of mutation delta F508 in patients of Basque origin

1 reference

12 December 2020

Identification of the cystic fibrosis gene: genetic analysis

1 reference

12 December 2020

Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene

1 reference

12 December 2020

Cystic fibrosis mutations in French Canadians: three CFTR mutations are relatively frequent in a Quebec population with an elevated incidence of cystic fibrosis

1 reference

12 December 2020

Distribution of the delta F508 mutation in 194 Spanish cystic fibrosis families

1 reference

12 December 2020

Dinucleotide (CA/GT) repeat polymorphism in intron 17B of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

1 reference

12 December 2020

Analysis of 14 cystic fibrosis mutations in five South European populations

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00230225

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8454290%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

1 reference