(Q33871990)

29 July 2017

title

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

1 reference

29 July 2017

0 references

B S Kerem

1

1 reference

29 July 2017

J Zielenski

2

1 reference

29 July 2017

D Markiewicz

3

1 reference

29 July 2017

D Bozon

4

1 reference

29 July 2017

E Gazit

5

1 reference

29 July 2017

J Yahav

6

1 reference

29 July 2017

D Kennedy

7

1 reference

29 July 2017

J R Riordan

8

1 reference

29 July 2017

F S Collins

9

1 reference

29 July 2017

J M Rommens

10

1 reference

29 July 2017

language of work or name

English

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publication date

1 November 1990

1 reference

Proceedings of the National Academy of Sciences of the United States of America

29 July 2017

published in

1 reference

29 July 2017

volume

87

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29 July 2017

issue

21

1 reference

29 July 2017

page(s)

8447-8451

1 reference

Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia

29 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=54973

An improved method for directly sequencing PCR amplified material using dimethyl sulphoxide

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=54973

A 5' splice-region G----C mutation in exon 1 of the human beta-globin gene inhibits pre-mRNA splicing: a mechanism for beta+-thalassemia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=54973

Identification of the cystic fibrosis gene: chromosome walking and jumping

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=54973

Identification of the cystic fibrosis gene: genetic analysis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=54973

DNA marker haplotype association with pancreatic sufficiency in cystic fibrosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=54973

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=54973

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=54973

Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=54973

Rapid nonradioactive detection of the major cystic fibrosis mutation.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=54973

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=54973

Structural model of ATP-binding proteins associated with cystic fibrosis, multidrug resistance and bacterial transport

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=54973

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=54973

A frame-shift mutation in the cystic fibrosis gene.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=54973

Ovalbumin gene: evidence for a leader sequence in mRNA and DNA sequences at the exon-intron boundaries

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=54973

DNA sequencing with chain-terminating inhibitors

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=54973

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=54973

A 3' splice site consensus sequence mutation in the cystic fibrosis gene

29 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/2236053

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Mapping of the cystic fibrosis locus on chromosome 7

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/2236053

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

PCR test for cystic fibrosis deletion

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/2236053

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1073/PNAS.87.21.8447

1 reference

29 July 2017

0 references

1 reference

29 July 2017

1 reference