Molecular mechanisms of McArdle's disease (muscle glycogen phosphorylase deficiency). RNA and DNA analysis (Q34556370)

3 August 2017

title

Molecular mechanisms of McArdle's disease (muscle glycogen phosphorylase deficiency). RNA and DNA analysis (English)

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nucleic acid sequence analysis

3 August 2017

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Gautron S

1

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3 August 2017

Daegelen D

2

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3 August 2017

Mennecier F

3

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3 August 2017

Dubocq D

4

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3 August 2017

Kahn A

5

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3 August 2017

Dreyfus JC

6

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3 August 2017

language of work or name

English

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publication date

1 January 1987

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Journal of Clinical Investigation

3 August 2017

published in

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3 August 2017

volume

79

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3 August 2017

issue

1

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3 August 2017

page(s)

275-281

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A FUNCTIONAL DISORDER OF MUSCLE ASSOCIATED WITH THE ABSENCE OF PHOSPHORYLASE.

3 August 2017

cites work

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Chronic progressive myopathy with myoglobinuria: demonstration of a glycogenolytic defect in the muscle

7 July 2018

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RNA processing errors in patients with beta-thalassemia

7 July 2018

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Processing of human beta-globin mRNA precursor to mRNA is defective in three patients with beta+-thalassemia

7 July 2018

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A new troponin T and cDNA clones for 13 different muscle proteins, found by shotgun sequencing

7 July 2018

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High-resolution chromosome sorting and DNA spot-blot analysis assign McArdle's syndrome to chromosome 11.

7 July 2018

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A seven-base-pair deletion in an intron of the albumin gene of analbuminemic rats

7 July 2018

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7 July 2018

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cDNA clone for the alpha-chain of human beta-hexosaminidase: deficiency of alpha-chain mRNA in Ashkenazi Tay-Sachs fibroblasts

7 July 2018

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Structure of Adenosine Deaminase mRNAs From Normal and Adenosine Deaminase-Deficient Human Cell Lines

7 July 2018

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Isolation and characterization of cDNA clones for human skeletal muscle α actin

7 July 2018

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Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

7 July 2018

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Phosphorylase isoenzymes in tissues: Prevalence of the liver type in man

7 July 2018

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Acute renal failure in McArdle's disease. Report of two cases

7 July 2018

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A molecular survey of hypoxanthine-guanine phosphoribosyltransferase deficiency in man.

7 July 2018

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Comparative sequence analysis of rat, rabbit, and human muscle glycogen phosphorylase cDNAs

7 July 2018

1 reference

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Normal mRNA content in a phosphoglycerate kinase variant with severe enzyme deficiency

7 July 2018

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Isolation of cDNA clones coding for the beta subunit of human beta-hexosaminidase

7 July 2018

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In vivo developmental modifications of the expression of genes encoding muscle-specific enzymes in rat.

7 July 2018

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Detection of specific sequences among DNA fragments separated by gel electrophoresis

7 July 2018

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Nucleotide sequence of bacteriophage φX174 DNA

7 July 2018

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Method for detection of specific RNAs in agarose gels by transfer to diazobenzyloxymethyl-paper and hybridization with DNA probes

7 July 2018

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Filamentous coliphage M13 as a cloning vehicle: insertion of a HindII fragment of the lac regulatory region in M13 replicative form in vitro

7 July 2018

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Complete amino acid sequence of rabbit muscle glycogen phosphorylase

7 July 2018

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beta 0 thalassemia, a nonsense mutation in man

7 July 2018

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Abnormal RNA splicing causes one form of alpha thalassemia

7 July 2018

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12 December 2020

DNA analysis in patients with hereditary fructose intolerance

1 reference

12 December 2020

Absence of functional messenger RNA for glycogen phosphorylase in the muscle of two patients with McArdle's disease

1 reference

12 December 2020

Cell-free translation of messenger RNAs from human muscle biopsies: a miniaturized tool for investigation of neuromuscular diseases

1 reference

12 December 2020

Abnormally spliced messenger RNA in erythroid cells from patients with β+ thalassemia and monkey cells expressing a cloned β+-thalassemic gene

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12 December 2020

Expression of aldolase A messenger RNAs in human adult and foetal tissues and in hepatoma

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12 December 2020

Myophosphorylase deficiency: two different molecular etiologies

1 reference

12 December 2020

Research on molecular mechanisms of McArdle's disease (muscle glycogen phosphorylase deficiency). Use of new protein mapping and immunological techniques

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12 December 2020

Detection of phenylalanine hydroxylase messenger RNA in liver biopsy samples from patients with phenylketonuria

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12 December 2020

Abnormal mRNA for argininosuccinate synthetase in citrullinaemia

1 reference

12 December 2020

Immunological studies on glycogen storage diseases type III and V. Demonstration of the presence of an immunoreactive protein in one case of muscle phosphorylase deficiency

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12 December 2020

Identifiers

DOI

10.1172/JCI112794

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3 August 2017

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3 August 2017

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