(Q33970491)

English

Cystic fibrosis patients bearing both the common missense mutation Gly----Asp at codon 551 and the delta F508 mutation are clinically indistinguishable from delta F508 homozygotes, except for decreased risk of meconium ileus

scientific article published on August 1, 1992

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Cystic fibrosis patients bearing both the common missense mutation Gly----Asp at codon 551 and the delta F508 mutation are clinically indistinguishable from delta F508 homozygotes, except for decreased risk of meconium ileus (English)

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

cystic fibrosis

0 references

intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency

1 reference

based on heuristic

inferred from title

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1379413

20 September 2022

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

author name string

McIntosh I

8

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

A. Hamosh

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1379413

20 September 2022

T. M. King

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1379413

20 September 2022

B. J. Rosenstein

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1379413

20 September 2022

M. Corey

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1379413

20 September 2022

H. Levison

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1379413

20 September 2022

P. Durie

6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1379413

20 September 2022

L. C. Tsui

7

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1379413

20 September 2022

I. McIntosh

8

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1379413

20 September 2022

M. Keston

9

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1379413

20 September 2022

D. J. Brock

10

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1379413

20 September 2022

language of work or name

0 references

publication date

1 August 1992

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

full work available at URL

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1379413/?tool=EBI

online access status

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1379413

20 September 2022

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1379413/pdf/?tool=EBI

Portable Document Format

online access status

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1379413

20 September 2022

https://europepmc.org/articles/PMC1682672

online access status

content deliverer

Europe PubMed Central

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1379413

20 September 2022

https://europepmc.org/articles/PMC1682672?pdf=render

Portable Document Format

online access status

content deliverer

Europe PubMed Central

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1379413

20 September 2022

American Journal of Human Genetics

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

51

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

2

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

245-250

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Surgery in patients with cystic fibrosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682672

5 July 2018

Identification of the cystic fibrosis gene: genetic analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682672

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682672

5 July 2018

The relation between genotype and phenotype in cystic fibrosis--analysis of the most common mutation (delta F508).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682672

5 July 2018

Independent genetic determinants of pancreatic and pulmonary status in cystic fibrosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682672

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682672

5 July 2018

The chest roentgenogram in cystic fibrosis: a new scoring system

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682672

5 July 2018

Severity of cystic fibrosis in patients homozygous and heterozygous for ΔF508 mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/1379413

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical and genetic comparisons of patients with cystic fibrosis, with or without meconium ileus

1 reference

https://pubmed.ncbi.nlm.nih.gov/1379413

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The systematic evaluation of the chest radiograph in cystic fibrosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/1379413

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Long-term study of one hundred five patients with cystic fibrosis; studies made over a five- to fourteen-year period

1 reference

https://pubmed.ncbi.nlm.nih.gov/1379413

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cystic fibrosis: relationship between clinical status and F508 deletion

1 reference

https://pubmed.ncbi.nlm.nih.gov/1379413

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

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