The most common mutation causing medium-chain acyl-CoA dehydrogenase deficiency is strongly associated with a particular haplotype in the region of the gene (Q68313011)

From Wikidata

Jump to navigation Jump to search

The printable version is no longer supported and may have rendering errors. Please update your browser bookmarks and please use the default browser print function instead.

scientific article published on 01 August 1991

Language	Label	Description	Also known as
English	The most common mutation causing medium-chain acyl-CoA dehydrogenase deficiency is strongly associated with a particular haplotype in the region of the gene	scientific article published on 01 August 1991

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1679031%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

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

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1679031%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

medium chain acyl-CoA dehydrogenase deficiency

0 references

author name string

S Kølvraa

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1679031%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

N Gregersen

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1679031%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

A I Blakemore

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1679031%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

A K Schneidermann

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1679031%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

V Winter

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1679031%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

B S Andresen

6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1679031%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

D Curtis

7

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1679031%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

P C Engel

8

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1679031%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

D Pricille

9

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1679031%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

W Rhead

10

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1679031%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

publication date

1 August 1991

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1679031%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1679031%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

87

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1679031%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1679031%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

425-428

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1679031%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

The mutation and polymorphism of the human beta-globin gene and its surrounding DNA.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1679031

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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/1679031

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/1679031

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A strategy to reveal high-frequency RFLPs along the human X chromosome

1 reference

https://pubmed.ncbi.nlm.nih.gov/1679031

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/1679031

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

"A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity". Addendum

1 reference

https://pubmed.ncbi.nlm.nih.gov/1679031

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

In vitro fibroblast studies in a patient with C6-C10-dicarboxylic aciduria: evidence for a defect in general acyl-CoA dehydrogenase

1 reference

https://pubmed.ncbi.nlm.nih.gov/1679031

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

PstI RFLP at the medium chain acyl-coenzyme A dehydrogenase locus (ACADM chromosome 1).

1 reference

https://pubmed.ncbi.nlm.nih.gov/1679031

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular basis and population genetics of phenylketonuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/1679031

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Localisation of RFLPs of the medium chain acyl-CoA dehydrogenase gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/1679031

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A comparison of [9,10-3H]palmitic and [9,10-3H]myristic acids for the detection of defects of fatty acid oxidation in intact cultured fibroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/1679031

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The locus for the medium-chain acyl-CoA dehydrogenase gene on chromosome 1 is highly polymorphic

1 reference

https://pubmed.ncbi.nlm.nih.gov/1679031

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular characterization of inherited medium-chain acyl-CoA dehydrogenase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/1679031

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Long-chain acyl coenzyme A dehydrogenase deficiency: an inherited cause of nonketotic hypoglycemia.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1679031

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

BamHI and MspI RFLP's in strong linkage disequilibrium at the medium chain acyl-coenzyme A dehydrogenase locus (ACADM chromosome 1).

1 reference

https://pubmed.ncbi.nlm.nih.gov/1679031

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DNA restriction fragments associated with alpha 1-antitrypsin indicate a single origin for deficiency allele PI Z.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1679031

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular lesion in patients with medium-chain acyl-CoA dehydrogenase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/1679031

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00197161

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1679031%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1679031%20AND%20SRC:MED&resulttype=core&format=json

23 September 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=Q68313011&oldid=2221650738"