(Q72093701)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7689902%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

title

A rapid, efficient, and sensitive assay for simultaneous detection of multiple cystic fibrosis mutations (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7689902%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7689902%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

author name string

Costes B

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7689902%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

Goossens M

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7689902%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

Ghanem N

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7689902%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

publication date

1 January 1993

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7689902%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7689902%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

volume

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7689902%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7689902%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

page(s)

185-191

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7689902%20AND%20SRC:MED&resulttype=core&format=json

Mutations in the catalytic domain of human coagulation factor IX: rapid characterization by direct genomic sequencing of DNA fragments displaying an altered melting behavior

23 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020306

7 January 2021

Detection of multiple cystic fibrosis mutations by reverse dot blot hybridization: a technology for carrier screening

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020306

7 January 2021

Simultaneous screening for 11 mutations in the cystic fibrosis transmembrane conductance regulator gene by multiplex amplification and reverse dot-blot

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020306

7 January 2021

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://api.crossref.org/works/10.1002%2FHUMU.1380020306

7 January 2021

Detection of over 98% cystic fibrosis mutations in a Celtic population

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020306

7 January 2021

Exhaustive screening of exon 10 CFTR gene mutations and polymorphisms by denaturing gradient gel electrophoresis: applications to genetic counselling in cystic fibrosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020306

7 January 2021

Identification of the cystic fibrosis gene: genetic analysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020306

7 January 2021

Cystic fibrosis mutations delta F508 and G542X in Jewish patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020306

7 January 2021

Methods for analysis of multiple cystic fibrosis mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020306

7 January 2021

Analysis of 14 cystic fibrosis mutations in five South European populations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020306

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020306

7 January 2021

Identification of the cystic fibrosis gene: chromosome walking and jumping

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020306

7 January 2021

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

https://api.crossref.org/works/10.1002%2FHUMU.1380020306

7 January 2021

Genetic analysis of amplified DNA with immobilized sequence-specific oligonucleotide probes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020306

7 January 2021

Identifiers

DOI

10.1002/HUMU.1380020306

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7689902%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

1 reference