(Q41637243)

5 October 2017

Cystic fibrosis mutations delta F508 and G542X in Jewish patients (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1377276

20 September 2022

0 references

I. Lerer

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1377276

20 September 2022

M. Sagi

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1377276

20 September 2022

G. R. Cutting

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1377276

20 September 2022

D. Abeliovich

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1377276

20 September 2022

language of work or name

English

0 references

publication date

1 February 1992

1 reference

PMC publication ID

1015854

full work available at URL

5 October 2017

https://europepmc.org/articles/PMC1015854

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1377276

https://europepmc.org/articles/PMC1015854?pdf=render

20 September 2022

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1377276

Journal of Medical Genetics

20 September 2022

published in

1 reference

5 October 2017

29

1 reference

5 October 2017

2

1 reference

5 October 2017

131-133

1 reference

DNA amplification for detection of the XV-2c polymorphism linked to cystic fibrosis.

5 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015854

Isodisomy of chromosome 7 in a patient with cystic fibrosis: could uniparental disomy be common in humans?

6 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015854

Identification of the cystic fibrosis gene: genetic analysis

6 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015854

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

6 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015854

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

6 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015854

Three point mutations in the CFTR gene in French cystic fibrosis patients: identification by denaturing gradient gel electrophoresis.

6 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015854

Cystic fibrosis haplotype association and the delta F508 mutation in adult British CF patients

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015854

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015854

Mutation analysis for heterozygote detection and the prenatal diagnosis of cystic fibrosis

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015854

Prenatal diagnosis of cystic fibrosis by DNA amplification for detection of KM-19 polymorphism

19 August 2018

1 reference

12 December 2020

The frequency of the delta F508 mutation on cystic fibrosis chromosomes in Israeli families: correlation to CF haplotypes in Jewish communities and Arabs

1 reference

12 December 2020

Population analysis of the major mutation in cystic fibrosis

1 reference

12 December 2020

Cystic fibrosis in Greece: typing with DNA probes and identification of the common molecular defect

1 reference

12 December 2020

Frequency of the delta F508 mutation in a sample of 175 Italian cystic fibrosis patients

1 reference

12 December 2020

The haplotype distribution of the delta F508 mutation in cystic fibrosis families in Scotland

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.29.2.131

1 reference

5 October 2017

1 reference

PMC publication ID

1015854

5 October 2017

1 reference

PMC publication ID

1015854