(Q28294248)

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Characterization of the mutations in the glucose-6-phosphatase gene in Israeli patients with glycogen storage disease type 1a: R83C in six Jews and a novel V166G mutation in a Muslim Arab

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scholarly article

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Characterization of the mutations in the glucose-6-phosphatase gene in Israeli patients with glycogen storage disease type 1a: R83C in six Jews and a novel V166G mutation in a Muslim Arab (English)

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glycogen storage disease

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based on heuristic

inferred from title

glycogen metabolic process

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inferred from title

Eli Hershkovitz

object named as

E Hershkovitz

3

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author name string

R Parvari

1

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S Moses

2

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R Carmi

4

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N Bashan

5

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language of work or name

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publication date

1995

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Journal of Inherited Metabolic Disease

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18

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1

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21-7

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Glycogen storage disease diagnosed in adults

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https://pubmed.ncbi.nlm.nih.gov/7623438

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7623438

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new microtechnique for the analysis of the human hepatic microsomal glucose-6-phosphatase system

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https://pubmed.ncbi.nlm.nih.gov/7623438

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular pathology of glucose-6-phosphatase

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https://pubmed.ncbi.nlm.nih.gov/7623438

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Isolation of the gene for murine glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1A

1 reference

https://pubmed.ncbi.nlm.nih.gov/7623438

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evidence for changes in the conformational status of rat liver microsomal glucose-6-phosphate:phosphohydrolase during detergent-dependent membrane modification. Effect of p-mercuribenzoate and organomercurial agarose gel on glucose-6-phosphatase of

1 reference

https://pubmed.ncbi.nlm.nih.gov/7623438

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Strand-separating conformational polymorphism analysis: efficacy of detection of point mutations in the human ornithine delta-aminotransferase gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/7623438

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Glycogen storage disease type 1b: microsomal glucose-6-phosphatase system in two patients with different clinical findings

1 reference

https://pubmed.ncbi.nlm.nih.gov/7623438

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cloning and expression of a hepatic microsomal glucose transport protein. Comparison with liver plasma-membrane glucose-transport protein GLUT 2

1 reference

https://pubmed.ncbi.nlm.nih.gov/7623438

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a

1 reference

https://pubmed.ncbi.nlm.nih.gov/7623438

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00711368

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