(Q35882240)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8940272%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

title

Severe and mild mutations in cis for the methylenetetrahydrofolate reductase (MTHFR) gene, and description of five novel mutations in MTHFR (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8940272%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

author name string

Goyette P

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8940272%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

Christensen B

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8940272%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

Rosenblatt DS

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8940272%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

Rozen R

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8940272%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

language of work or name

English

0 references

publication date

1 December 1996

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8940272%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

21 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8940272%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

volume

59

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8940272%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

page(s)

1268-1275

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8940272%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8940272%20AND%20SRC:MED&resulttype=core&format=json

Nutritional ecogenetics: homocysteine-related arteriosclerotic vascular disease, neural tube defects, and folic acid

21 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914869

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914869

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914869

A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914869

Methylenetetrahydrofolate reductase. Evidence for spatially distinct subunit domains obtained by scanning transmission electron microscopy and limited proteolysis.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914869

Intermediate hyperhomocysteinemia resulting from compound heterozygosity of methylenetetrahydrofolate reductase mutations

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914869

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914869

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914869

Relation between folate status, a common mutation in methylenetetrahydrofolate reductase, and plasma homocysteine concentrations.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914869

Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914869

A genetic defect in 5,10 methylenetetrahydrofolate reductase in neural tube defects

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914869

Photoaffinity labeling of methylenetetrahydrofolate reductase with 8-azido-S-adenosylmethionine

22 October 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

A Quantitative Assessment of Plasma Homocysteine as a Risk Factor for Vascular Disease

1 reference

12 December 2020

Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8940272%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

1 reference