Molecular basis of AMP deaminase deficiency in skeletal muscle (Q24564559)

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18 October 2022

M. Gross

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18 October 2022

H. Morisaki

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18 October 2022

D. Pongratz

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18 October 2022

N. Zöllner

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18 October 2022

E. W. Holmes

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full work available at URL

18 October 2022

language of work or name

English

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publication date

15 July 1992

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https://europepmc.org/articles/PMC49520

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1631143

https://europepmc.org/articles/PMC49520?pdf=render

18 October 2022

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1631143

https://pnas.org/doi/pdf/10.1073/pnas.89.14.6457

18 October 2022

1 reference

Crossref

DOI

10.1073/PNAS.89.14.6457

https://api.crossref.org/works/10.1073/PNAS.89.14.6457

Proceedings of the National Academy of Sciences of the United States of America

18 October 2022

published in

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volume

89

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page(s)

6457-61

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issue

14

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cites work

Myoadenylate deaminase deficiency. Functional and metabolic abnormalities associated with disruption of the purine nucleotide cycle

1 reference

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Cloning in single-stranded bacteriophage as an aid to rapid DNA sequencing

24 March 2017

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Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

24 March 2017

1 reference

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Myoadenylate Deaminase Deficiency: A New Disease of Muscle

24 March 2017

1 reference

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Isolation and sequence analysis of a full-length cDNA for human M creatine kinase

24 March 2017

1 reference

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Familial myoadenylate deaminase deficiency and exertional myalgia

24 March 2017

1 reference

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Myoadenylate deaminase deficiency in a patient with facial and limb girdle myopathy

24 March 2017

1 reference

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Characterization of the human and rat myoadenylate deaminase genes

24 March 2017

1 reference

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Molecular analysis of the myoadenylate deaminase deficiencies

24 March 2017

1 reference

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The molecular basis of the sparse fur mouse mutation

24 March 2017

1 reference

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Evidence for sequential expression of multiple AMP deaminase isoforms during skeletal muscle development

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49520

Expression of three stage-specific transcripts of AMP deaminase during myogenesis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49520

A novel pathway for alternative splicing: identification of an RNA intermediate that generates an alternative 5' splice donor site not present in the primary transcript of AMPD1.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49520

Adenylate deaminase. A multigene family in humans and rats

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49520

Myoadenylate deaminase deficiency: inherited and acquired forms.

27 September 2017

1 reference

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Distribution of AMP-deaminase isozymes in rat tissues.

30 May 2018

1 reference

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Analysis of enzymatically amplified β-globin and HLA-DQα DNA with allele-specific oligonucleotide probes

30 May 2018

1 reference

12 December 2020

Characterization of β-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA

1 reference

12 December 2020

McArdle's disease with myoadenylate deaminase deficiency: observations in a combined enzyme deficiency

1 reference

12 December 2020

Myoadenylate deaminase deficiency

1 reference

12 December 2020

Myoadenylate deaminase deficiency: a clinical, genetic, and biochemical study in nine families

1 reference

12 December 2020

Progressive myalgias and polyarthralgias in a patient with myoadenylate deaminase deficiency

1 reference

12 December 2020

Myoadenylate deaminase deficiency in a patient with progressive systemic sclerosis

1 reference

12 December 2020

Immunologic distinction of human muscle adenylate deaminase from the isoenzyme(s) in human peripheral blood cells: implications for myoadenylate deaminase deficiency

1 reference

12 December 2020

Myoadenylate deaminase deficiency or not? Observations on two brothers with exercise-induced muscle pain

1 reference

12 December 2020

Muscle adenylate deaminase deficiency. Report of six new cases

1 reference

12 December 2020

Myoadenylate deaminase deficiency--muscle biopsy and muscle culture in a patient with gout

1 reference

12 December 2020

Myoadenylate deaminase deficiency

1 reference

12 December 2020

Myoadenylate deaminase deficiency studies on normal and deaminase-deficient skeletal muscle

1 reference

12 December 2020