(Q80985283)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15536480%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

title

A large-scale study of the random variability of a coding sequence: a study on the CFTR gene (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15536480%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15536480%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

author name string

Guido Modiano

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15536480%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Cristina Bombieri

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15536480%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Bianca Maria Ciminelli

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15536480%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Francesca Belpinati

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15536480%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Silvia Giorgi

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15536480%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Marie des Georges

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15536480%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Virginie Scotet

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15536480%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Fiorenza Pompei

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15536480%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Caroline Guittard

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15536480%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Marie Pierre Audrézet

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15536480%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Angela Begnini

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15536480%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Michael Toepfer

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15536480%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Milan Macek

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15536480%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Claude Ferec

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15536480%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Mireille Claustres

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15536480%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Pier Franco Pignatti

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15536480%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

publication date

1 February 2005

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15536480%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

5 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15536480%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

volume

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15536480%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15536480%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

page(s)

184-192

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15536480%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201306

5 January 2020

exact match

0 references

cites work

Missense, nonsense, and neutral mutations define juxtaposed regulatory elements of splicing in cystic fibrosis transmembrane regulator exon 9.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201306

7 January 2021

New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201306

7 January 2021

DNA sequence diversity in a 9.7-kb region of the human lipoprotein lipase gene.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201306

7 January 2021

Characterization of single-nucleotide polymorphisms in coding regions of human genes

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201306

7 January 2021

Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201306

7 January 2021

Sequence diversity and large-scale typing of SNPs in the human apolipoprotein E gene

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201306

7 January 2021

Human genomes, public and private

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201306

7 January 2021

A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201306

7 January 2021

JSNP: a database of common gene variations in the Japanese population

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201306

7 January 2021

Screening a large reference sample to identify very low frequency sequence variants: comparisons between two genes

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201306

7 January 2021

Natural variation in human membrane transporter genes reveals evolutionary and functional constraints

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201306

7 January 2021

A new approach for identifying non-pathogenic mutations. An analysis of the cystic fibrosis transmembrane regulator gene in normal individuals

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201306

7 January 2021

Identification of eight mutations and three sequence variations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201306

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/10.1038%2FSJ.EJHG.5201306

7 January 2021

A rare DNA variant in exon 15 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201306

7 January 2021

On the number of segregating sites in genetical models without recombination

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201306

7 January 2021

Haplotype variation and linkage disequilibrium in 313 human genes

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201306

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201306

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15536480%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

1 reference