(Q72290273)

English

Scottish frequency of the common G985 mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene and the role of MCAD deficiency in sudden infant death syndrome (SIDS)

scientific article published on 01 January 1993

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8127075%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

Scottish frequency of the common G985 mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene and the role of MCAD deficiency in sudden infant death syndrome (SIDS) (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8127075%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

sudden infant death syndrome

1 reference

based on heuristic

inferred from title

medium chain acyl-CoA dehydrogenase deficiency

0 references

author name string

M Dundar

1

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8127075%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

W G Lanyon

2

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8127075%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

J M Connor

3

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8127075%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

publication date

1 January 1993

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8127075%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

Journal of Inherited Metabolic Disease

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8127075%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

16

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8127075%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

991-993

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8127075%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

6

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8127075%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

https://scigraph.springernature.com/pub.10.1007/bf00711516

0 references

Molecular characterization of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: identification of a lys329 to glu mutation in the MCAD gene, and expression of inactive mutant enzyme protein in E. coli

1 reference

https://pubmed.ncbi.nlm.nih.gov/8127075

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Frequency of the G985 MCAD mutation in the general population

1 reference

https://pubmed.ncbi.nlm.nih.gov/8127075

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nucleotide sequence of medium-chain acyl-CoA dehydrogenase mRNA and its expression in enzyme-deficient human tissue

1 reference

https://pubmed.ncbi.nlm.nih.gov/8127075

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular cloning of cDNAs encoding rat and human medium-chain acyl-CoA dehydrogenase and assignment of the gene to human chromosome 1

1 reference

https://pubmed.ncbi.nlm.nih.gov/8127075

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/8127075

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular survey of a prevalent mutation, 985A-to-G transition, and identification of five infrequent mutations in the medium-chain Acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/8127075

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prevalence of K329E mutation in medium-chain acyl-CoA dehydrogenase gene determined from Guthrie cards

1 reference

https://pubmed.ncbi.nlm.nih.gov/8127075

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Guthrie spots for DNA-based carrier testing in cystic fibrosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/8127075

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The most common mutation causing medium-chain acyl-CoA dehydrogenase deficiency is strongly associated with a particular haplotype in the region of the gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/8127075

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00711516

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8127075%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8127075%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q72290273&oldid=1984485743"