(Q28609997)

English

Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe methylenetetrahydrofolate reductase deficiency

scientific journal article

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scholarly article

2 references

3 February 2017

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726158%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe methylenetetrahydrofolate reductase deficiency (English)

2 references

3 February 2017

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726158%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

methylenetetrahydrofolate reductase deficiency

0 references

1 reference

based on heuristic

inferred from title

author name string

Goyette P

1

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726158%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

Frosst P

2

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726158%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

Rosenblatt DS

3

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726158%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

Rozen R

4

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726158%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

language of work or name

0 references

publication date

1 May 1995

2 references

3 February 2017

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726158%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

American Journal of Human Genetics

2 references

3 February 2017

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726158%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

56

2 references

3 February 2017

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726158%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

5

2 references

3 February 2017

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726158%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

1052-1059

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726158%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

Crystal structures of medium-chain acyl-CoA dehydrogenase from pig liver mitochondria with and without substrate

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801446

17 March 2017

Comparative anatomy of the human APRT gene and enzyme: nucleotide sequence divergence and conservation of a nonrandom CpG dinucleotide arrangement

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801446

17 March 2017

Nucleotide sequence of the gene for human prothrombin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801446

17 March 2017

Crystal structures of recombinant human dihydrofolate reductase complexed with folate and 5-deazafolate

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801446

17 March 2017

Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping and mutation identification

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801446

29 September 2017

Novel PKU mutation on haplotype 2 in French-Canadians

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801446

29 September 2017

Splice junctions, branch point sites, and exons: sequence statistics, identification, and applications to genome project

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801446

29 September 2017

Thermolabile methylenetetrahydrofolate reductase: an inherited risk factor for coronary artery disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801446

29 September 2017

Crystal structure of avian dihydrofolate reductase containing phenyltriazine and NADPH.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801446

3 June 2018

Homocystinuria associated with decreased methylenetetrahydrofolate reductase activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801446

3 June 2018

Pathological findings in 5,10-methylene tetrahydrofolate reductase deficiency.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801446

3 June 2018

Cloning and sequence analysis of the mouse genomic locus encoding the largest subunit of RNA polymerase II.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801446

3 June 2018

Methylenetetrahydrofolate reductase in cultured human cells. II. Genetic and biochemical studies of methylenetetrahydrofolate reductase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801446

3 June 2018

Homocystinuria caused by 5,10-methylenetetrahydrofolate reductase deficiency: a case in an infant responding to methionine, folinic acid, pyridoxine, and vitamin B12 therapy

1 reference

https://pubmed.ncbi.nlm.nih.gov/7726158

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Methylenetetrahydrofolate reductase (MR) deficiency: thermolability of residual MR activity, methionine synthase activity, and methylcobalamin levels in cultured fibroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/7726158

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Folate-responsive homocystinuria and "schizophrenia". A defect in methylation due to deficient 5,10-methylenetetrahydrofolate reductase activity

1 reference

https://pubmed.ncbi.nlm.nih.gov/7726158

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:7726158%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

2 references

3 February 2017

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726158%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

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