(Q42841512)

English

Compound heterozygosity for the delta F508 and F508C cystic fibrosis transmembrane conductance regulator (CFTR) mutations in a patient with congenital bilateral aplasia of the vas deferens

scientific article published on July 1993

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scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7686336%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

Compound heterozygosity for the delta F508 and F508C cystic fibrosis transmembrane conductance regulator (CFTR) mutations in a patient with congenital bilateral aplasia of the vas deferens (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7686336%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

congenital disorder

0 references

congenital bilateral aplasia of the vas deferens

0 references

transmembrane protein

0 references

cystic fibrosis

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

author name string

Meschede D

1

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7686336%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

Eigel A

2

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7686336%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

Horst J

3

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7686336%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

Nieschlag E

4

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7686336%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

language of work or name

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publication date

1 July 1993

1 reference

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23 October 2019

American Journal of Human Genetics

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7686336%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

53

1 reference

Europe PubMed Central

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23 October 2019

1

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7686336%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

292-293

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7686336%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

Congenital absence of the vas deferens. The fertilizing capacity of human epididymal sperm

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682253

27 May 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=1682253

27 May 2018

Benign missense variations in 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=1682253

27 May 2018

Missense variations in the cystic fibrosis gene: heteroduplex formation in the F508C mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682253

27 May 2018

Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/7686336

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7686336%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7686336%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

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