(Q33679861)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9429141%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

title

Novel and characteristic CFTR mutations in Saudi Arab children with severe cystic fibrosis (English)

1 reference

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8 November 2019

0 references

2

1 reference

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8 November 2019

Manfred Stuhrmann

3

1 reference

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8 November 2019

author name string

E A el-Harith

1

1 reference

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8 November 2019

H Abu-Srair

4

1 reference

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8 November 2019

A al-Shahri

5

1 reference

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8 November 2019

K M Keller

6

1 reference

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8 November 2019

M J Lentze

7

1 reference

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8 November 2019

J Schmidtke

8

1 reference

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8 November 2019

language of work or name

English

0 references

publication date

1 December 1997

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9429141%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

8 November 2019

published in

1 reference

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8 November 2019

volume

34

1 reference

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8 November 2019

issue

12

1 reference

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8 November 2019

page(s)

996-999

1 reference

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Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75%.

8 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051150

First report of CFTR mutations in black cystic fibrosis patients of southern African origin

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051150

Distribution of CFTR mutations in cystic fibrosis patients of Tunisian origin: identification of two novel mutations.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051150

Highly variable incidence of cystic fibrosis and different mutation distribution among different Jewish ethnic groups in Israel

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051150

Cystic fibrosis in Saudi Arabia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051150

Identification of the cystic fibrosis gene: chromosome walking and jumping

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051150

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051150

Identification of the cystic fibrosis gene: genetic analysis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051150

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051150

A mutation in the second nucleotide binding fold of the cystic fibrosis gene.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051150

Cystic fibrosis presenting with recurrent vomiting and metabolic alkalosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051150

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051150

DNA sequencing with chain-terminating inhibitors

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051150

Cystic fibrosis and the liver--a Saudi experience

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051150

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

30 October 2018

1 reference

12 December 2020

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

12 December 2020

Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients

1 reference

12 December 2020

Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91.2% of the mutant alleles in southern France

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.34.12.996

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9429141%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9429141%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

PubMed publication ID

9429141

1 reference