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)

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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

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scholarly article

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Europe PubMed Central

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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)

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Europe PubMed Central

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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

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author name string

S Kølvraa

1

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23 September 2019

N Gregersen

2

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23 September 2019

A I Blakemore

3

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23 September 2019

A K Schneidermann

4

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23 September 2019

V Winter

5

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23 September 2019

B S Andresen

6

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23 September 2019

D Curtis

7

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23 September 2019

P C Engel

8

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23 September 2019

D Pricille

9

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23 September 2019

W Rhead

10

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23 September 2019

publication date

1 August 1991

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23 September 2019

1 reference

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23 September 2019

87

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23 September 2019

4

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23 September 2019

425-428

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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

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