(Q42659227)

4 November 2017

Rapid detection of medium chain acyl-CoA dehydrogenase gene mutations by non-radioactive, single strand conformation polymorphism minigels (English)

1 reference

4 November 2017

Iolascon A

1

1 reference

4 November 2017

Parrella T

2

1 reference

4 November 2017

Perrotta S

3

1 reference

4 November 2017

Guardamagna O

4

1 reference

4 November 2017

Coates PM

5

1 reference

4 November 2017

Sartore M

6

1 reference

4 November 2017

Surrey S

7

1 reference

4 November 2017

Fortina P

8

1 reference

4 November 2017

language of work or name

English

0 references

publication date

1 July 1994

1 reference

Journal of Medical Genetics

4 November 2017

1 reference

4 November 2017

31

1 reference

4 November 2017

551-554

1 reference

4 November 2017

7

1 reference

Construction of human gene libraries from small amounts of peripheral blood: analysis of beta-like globin genes

4 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049978

Medium-chain acyl-CoA dehydrogenase deficiency. Diagnosis by stable-isotope dilution measurement of urinary n-hexanoylglycine and 3-phenylpropionylglycine

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049978

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049978

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049978

Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049978

Diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency in the neonatal period by measurement of medium-chain fatty acids in plasma and filter paper blood samples

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049978

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049978

Tandem mass spectrometry: a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049978

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049978

Structural organization and regulatory regions of the human medium-chain acyl-CoA dehydrogenase gene

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049978

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049978

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049978

Medium-chain acyl-CoA dehydrogenase deficiency: molecular aspects

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049978

Frequency of medium-chain acyl-CoA dehydrogenase deficiency G-985 mutation in sudden infant death syndrome

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049978

Molecular basis of inherited medium-chain acyl-CoA dehydrogenase deficiency causing sudden child death

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049978

Inherited disorders of mitochondrial fatty acid oxidation

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049978

Donor-recipient bone-marrow matching by single strand conformation polymorphism analysis

27 May 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/7966191

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

DNA single-strand conformation polymorphism method to distinguish DR4 alleles

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/7966191

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.31.7.551

1 reference

release_fx3xcag2yfdnnkji2t27t2vpqe

4 November 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/fx3xcag2yfdnnkji2t27t2vpqe

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

4 November 2017

1 reference