Cloning and expression of mutations demonstrating intragenic complementation in mut0 methylmalonic aciduria (Q24605458)

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Language	Label	Description	Also known as
English	Cloning and expression of mutations demonstrating intragenic complementation in mut0 methylmalonic aciduria	scientific article

Statements

instance of

scholarly article

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title

Cloning and expression of mutations demonstrating intragenic complementation in mut0 methylmalonic aciduria (English)

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main subject

cell line

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author name string

A A Qureshi

series ordinal

1

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A M Crane

series ordinal

2

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N V Matiaszuk

series ordinal

3

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I Rezvani

series ordinal

4

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F D Ledley

series ordinal

5

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D S Rosenblatt

series ordinal

6

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language of work or name

English

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publication date

April 1994

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published in

Journal of Clinical Investigation

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volume

93

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issue

4

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page(s)

1812-9

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describes a project that uses

GM01673

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MCH024

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WG1130

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WG1511

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WG1586

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WG1588

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WG1599

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WG1607

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WG1609

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WG1610

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WG1611

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WG1613

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WG1618

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WG1681

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cites work

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

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7 April 2017

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

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7 April 2017

Heterozygous mutations at the mut locus in fibroblasts with mut0 methylmalonic acidemia identified by polymerase-chain-reaction cDNA cloning

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PubMed Central

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7 April 2017

Genetic characterization of a MUT locus mutation discriminating heterogeneity in mut0 and mut- methylmalonic aciduria by interallelic complementation

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PubMed Central

reference URL

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7 April 2017

Cloning and expression of a mutant methylmalonyl coenzyme A mutase with altered cobalamin affinity that causes mut- methylmalonic aciduria

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PubMed Central

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7 April 2017

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

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27 September 2017

Structure of the human methylmalonyl-CoA mutase (MUT) locus

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7 April 2017

Immunochemical studies on cultured fibroblasts from patients with inherited methylmalonic acidemia

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PubMed Central

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27 September 2017

Congenital methylmalonic acidemia: enzymatic evidence for two forms of the disease

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27 September 2017

Inherited disorders of vitamin B12 metabolism

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27 September 2017

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

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27 September 2017

Construction of plasmids that express E. coli beta-galactosidase in mammalian cells.

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27 September 2017

Short PCR product yields improved by lower denaturation temperatures

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27 September 2017

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

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27 September 2017

Differential diagnosis of mut and cbl methylmalonic aciduria by DNA-mediated gene transfer in primary fibroblasts

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27 September 2017

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

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27 September 2017

Varying neurological phenotypes among mut° and mut− patients with methylmalonylCoA mutase deficiency

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30 May 2018

Primary structure and activity of mouse methylmalonyl-CoA mutase

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30 May 2018

Expression of recombinant human methylmalonyl-CoA mutase: in primary mut fibroblasts and Saccharomyces cerevisiae

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https://pubmed.ncbi.nlm.nih.gov/7909321

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A simplified, single tube, single buffer system for RNA-PCR

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7909321

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1172/JCI117166

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PMC publication ID

294249

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PubMed publication ID

7909321

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