Heterogeneous alleles and expression of methylmalonyl CoA mutase in mut methylmalonic acidemia (Q35197852)

7 August 2017

title

Heterogeneous alleles and expression of methylmalonyl CoA mutase in mut methylmalonic acidemia (English)

1 reference

7 August 2017

F D Ledley

1

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7 August 2017

A M Crane

series ordinal

2

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7 August 2017

M Lumetta

series ordinal

3

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7 August 2017

language of work or name

English

0 references

publication date

1 March 1990

1 reference

American Journal of Human Genetics

7 August 2017

published in

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7 August 2017

volume

46

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7 August 2017

issue

3

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7 August 2017

page(s)

539-547

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Homocystinuria and megaloblastic anemia responsive to vitamin B12 therapy. An inborn error of metabolism due to a defect in cobalamin metabolism

7 August 2017

cites work

1 reference

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Altered vitamin B12 metabolism in fibroblasts from a patient with megaloblastic anemia and homocystinuria due to a new defect in methionine biosynthesis

28 July 2018

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The Natural History of the Inherited Methylmalonic Acidemias

28 July 2018

1 reference

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Immunochemical studies on cultured fibroblasts from patients with inherited methylmalonic acidemia

28 July 2018

1 reference

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Isolation and characterization of methylmalonyl-CoA mutase from human placenta

28 July 2018

1 reference

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Linkage relationships of the human methylmalonyl CoA mutase to the HLA and D6S4 loci on chromosome 6

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683614

Mapping of human methylmalonyl CoA mutase (MUT) locus on chromosome 6.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683614

Immunochemical studies of fibroblasts from patients with methylmalonyl-CoA mutase apoenzyme deficiency: detection of a mutation interfering with mitochondrial import

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683614

Nonsense and missense mutations in hemophilia A: estimate of the relative mutation rate at CG dinucleotides

28 July 2018

1 reference

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Cloning and structural characterization of the genes coding for adenosylcobalamin-dependent methylmalonyl-CoA mutase from Propionibacterium shermanii

28 July 2018

1 reference

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Cloning of full-length methylmalonyl-CoA mutase from a cDNA library using the polymerase chain reaction

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683614

Molecular cloning of L-methylmalonyl-CoA mutase: gene transfer and analysis of mut cell lines

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683614

Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

28 July 2018

1 reference

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Genetic complementation among inherited deficiencies of methylmalonyl-CoA mutase activity: evidence for a new class of human cobalamin mutant

28 July 2018

1 reference

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Inherited deficiencies of human methylmalonyl CaA mutase activity: reduced affinity of mutant apoenzyme for adenosylcobalamin

28 July 2018

1 reference

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A simple, rapid method for prenatal detection of defects in propionate metabolism

28 July 2018

1 reference

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Massachusetts Metabolic Disorders Screening Program. II. Methylmalonic aciduria

28 July 2018

1 reference

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Purification and properties of methylmalonyl coenzyme A mutase from human liver

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683614

L-methylmalonyl-CoA mutase from human placenta

26 September 2018

1 reference

12 December 2020

Restriction sites containing CpG show a higher frequency of polymorphism in human DNA

1 reference

12 December 2020

Biogenesis of the mitochondrial enzyme methylmalonyl-CoA mutase. Synthesis and processing of a precursor in a cell-free system and in cultured cells

1 reference

12 December 2020

Benign methylmalonic aciduria

1 reference

12 December 2020

Rapid prenatal and postnatal detection of inborn errors of propionate, methylmalonate, and cobalamin metabolism: a sensitive assay using cultured cells

1 reference

12 December 2020

Identifiers

PMC publication ID

1683614

1 reference

7 August 2017

1 reference