(Q34323060)

1 August 2017

title

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

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Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness

1 August 2017

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corrigendum / erratum

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12 July 2019

http://api.crossref.org/works?select=update-to&filter=doi:10.1038/NG0894-551A

author name string

Goyette P

1

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1 August 2017

Sumner JS

2

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1 August 2017

Milos R

3

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1 August 2017

Duncan AM

4

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1 August 2017

Rosenblatt DS

5

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1 August 2017

Matthews RG

6

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1 August 2017

Rozen R

7

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1 August 2017

language of work or name

English

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publication date

1 June 1994

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1 August 2017

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1 August 2017

volume

7

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1 August 2017

issue

2

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1 August 2017

page(s)

195-200

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describes a project that uses

1 August 2017

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https://scigraph.springernature.com/pub.10.1038/ng0694-195

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cites work

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0694-195

7 January 2021

Symptomatic and asymptomatic methylenetetrahydrofolate reductase deficiency in two adult brothers

1 reference

https://api.crossref.org/works/10.1038%2FNG0694-195

7 January 2021

Nucleotide sequence ofmetF, theE. colistructural gene for 5–10 methylene tetrahydrofolate reductase and of its control region

1 reference

https://api.crossref.org/works/10.1038%2FNG0694-195

7 January 2021

Methylenetetrahydrofolate reductase from pig liver

1 reference

https://api.crossref.org/works/10.1038%2FNG0694-195

7 January 2021

Cloning and nucleotide sequence of the Salmonella typhimurium LT2 metF gene and its homology with the corresponding sequence of Escherichia coli

1 reference

https://api.crossref.org/works/10.1038%2FNG0694-195

7 January 2021

Molecular cloning and nucleotide sequence analysis of the Saccharomyces cerevisiae RAD1 gene

1 reference

https://api.crossref.org/works/10.1038%2FNG0694-195

7 January 2021

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

1 reference

https://api.crossref.org/works/10.1038%2FNG0694-195

7 January 2021

Mammalian methylenetetrahydrofolate reductase. Partial purification, properties, and inhibition by S-adenosylmethionine

1 reference

https://api.crossref.org/works/10.1038%2FNG0694-195

7 January 2021

Purification and characterization of methylenetetrahydrofolate reductase from human cadaver liver

1 reference

https://api.crossref.org/works/10.1038%2FNG0694-195

7 January 2021

Heterozygosity for Homocystinuria in Premature Peripheral and Cerebral Occlusive Arterial Disease

1 reference

https://api.crossref.org/works/10.1038%2FNG0694-195

7 January 2021

Hyperhomocysteinemia: an independent risk factor for vascular disease

1 reference

https://api.crossref.org/works/10.1038%2FNG0694-195

7 January 2021

Localization of single copy DNA sequences of G-banded human chromosomes by in situ hybridization

1 reference

https://api.crossref.org/works/10.1038%2FNG0694-195

7 January 2021

High-resolution chromosomal localization of the beta-gene of the human beta-globin gene complex by in situ hybridization

1 reference

https://api.crossref.org/works/10.1038%2FNG0694-195

7 January 2021

Non-isotopic detection of single strand conformation polymorphism (PCR-SSCP): a rapid and sensitive technique in diagnosis of phenylketonuria

1 reference

https://api.crossref.org/works/10.1038%2FNG0694-195

7 January 2021

Gene deletion and restriction fragment length polymorphisms at the human ornithine transcarbamylase locus

1 reference

https://api.crossref.org/works/10.1038%2FNG0694-195

7 January 2021

Identifiers

DOI

10.1038/NG0694-195

1 reference

1 August 2017

1 reference