(Q35194683)

English

Three RFLPs defining a haplotype associated with the common mutation in human medium-chain acyl-CoA dehydrogenase (MCAD) deficiency occur in Alu repeats.

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Europe PubMed Central

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24 October 2019

Three RFLPs defining a haplotype associated with the common mutation in human medium-chain acyl-CoA dehydrogenase (MCAD) deficiency occur in Alu repeats (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8099254%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

medium chain acyl-CoA dehydrogenase deficiency

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author name string

Z Zhang

1

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24 October 2019

S Kolvraa

2

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24 October 2019

Y Zhou

3

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24 October 2019

D P Kelly

4

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24 October 2019

N Gregersen

5

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24 October 2019

A W Strauss

6

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24 October 2019

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1 June 1993

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24 October 2019

American Journal of Human Genetics

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24 October 2019

52

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24 October 2019

1111-1121

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24 October 2019

6

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Europe PubMed Central

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24 October 2019

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682270

13 July 2018

A fundamental division in the Alu family of repeated sequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682270

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682270

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682270

13 July 2018

Molecular basis of medium chain acyl-coenzyme A dehydrogenase deficiency. An A to G transition at position 985 that causes a lysine-304 to glutamate substitution in the mature protein is the single prevalent mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682270

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682270

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682270

13 July 2018

Clusters of intragenic Alu repeats predispose the human C1 inhibitor locus to deleterious rearrangements

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682270

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682270

13 July 2018

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682270

13 July 2018

A human-specific subfamily of Alu sequences.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682270

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682270

13 July 2018

A de novo Alu insertion results in neurofibromatosis type 1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682270

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682270

13 July 2018

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682270

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682270

13 July 2018

Serial Alu sequence transposition interrupting a human B creatine kinase pseudogene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682270

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682270

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682270

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682270

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682270

27 September 2018

Mutations in medium chain acyl-CoA dehydrogenase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/8099254

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/8099254

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/8099254

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Specific diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in dried blood spots by a polymerase chain reaction (PCR) assay detecting a point-mutation (G985) in the MCAD gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/8099254

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8099254%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8099254%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

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