(Q71345299)

English

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a new method to identify the G1528C mutation in genomic DNA showing its high frequency (approximately 90%) and identification of a new mutation (T2198C)

scientific article published on 01 January 1996

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scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8739956%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a new method to identify the G1528C mutation in genomic DNA showing its high frequency (approximately 90%) and identification of a new mutation (T2198C) (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8739956%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

1 reference

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author name string

L Ijlst

1

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8739956%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

J P Ruiter

2

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8739956%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

J Vreijling

3

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8739956%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

R J Wanders

4

1 reference

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18 October 2019

publication date

1 January 1996

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18 October 2019

Journal of Inherited Metabolic Disease

1 reference

Europe PubMed Central

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18 October 2019

19

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18 October 2019

165-168

1 reference

Europe PubMed Central

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18 October 2019

2

1 reference

Europe PubMed Central

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18 October 2019

https://scigraph.springernature.com/pub.10.1007/bf01799420

0 references

Rapid and simple method for purification of nucleic acids

1 reference

https://pubmed.ncbi.nlm.nih.gov/8739956

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the alpha-subunit of the mitochondrial trifunctional protein

1 reference

https://pubmed.ncbi.nlm.nih.gov/8739956

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human liver long-chain 3-hydroxyacyl-coenzyme A dehydrogenase is a multifunctional membrane-bound beta-oxidation enzyme of mitochondria

1 reference

https://pubmed.ncbi.nlm.nih.gov/8739956

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel fatty acid beta-oxidation enzymes in rat liver mitochondria. II. Purification and properties of enoyl-coenzyme A (CoA) hydratase/3-hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase trifunctional protein

1 reference

https://pubmed.ncbi.nlm.nih.gov/8739956

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: high frequency of the G1528C mutation with no apparent correlation with the clinical phenotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/8739956

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structures of the human cDNA and gene encoding the 78 kDa gastrin-binding protein and of a related pseudogene

1 reference

https://pubmed.ncbi.nlm.nih.gov/8739956

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF01799420

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8739956%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8739956%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

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