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label / enlabel / en
cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in Denmark
cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in Denmark.
label / nllabel / nl
cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in Denmark
description / ukdescription / uk
наукова стаття, опублікована в березні 2008
наукова стаття
description / hydescription / hy
2008 թվականի մարտի 12-ին հրատարակված գիտական հոդված
Property / titleProperty / title
cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in Denmark (English)
cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in Denmark. (English)
Property / ResearchGate publication ID
 
Property / ResearchGate publication ID: 5514053 / rank
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Property / cites work
 
Property / cites work: 66th/67th ENMC sponsored international workshop: The limb-girdle muscular dystrophies, 26-28 March 1999, Naarden, The Netherlands / rank
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Property / cites work: 66th/67th ENMC sponsored international workshop: The limb-girdle muscular dystrophies, 26-28 March 1999, Naarden, The Netherlands / reference
stated in: Crossref
reference URL: https://api.crossref.org/works/10.1038%2FEJHG.2008.47
retrieved: 21 January 2018
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Property / cites work
 
Property / cites work: Calpains and disease / rank
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Property / cites work: Calpains and disease / reference
stated in: Crossref
reference URL: https://api.crossref.org/works/10.1038%2FEJHG.2008.47
retrieved: 21 January 2018
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Property / cites work
 
Property / cites work: Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes / rank
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Property / cites work: Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes / reference
stated in: Crossref
reference URL: https://api.crossref.org/works/10.1038%2FEJHG.2008.47
retrieved: 21 January 2018
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Property / cites work
 
Property / cites work: The frequency of limb girdle muscular dystrophy 2A in northeastern Italy / rank
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Property / cites work: The frequency of limb girdle muscular dystrophy 2A in northeastern Italy / reference
stated in: Crossref
reference URL: https://api.crossref.org/works/10.1038%2FEJHG.2008.47
retrieved: 21 January 2018
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Property / cites work
 
Property / cites work: LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene. / rank
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Property / cites work: LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene. / reference
stated in: Crossref
reference URL: https://api.crossref.org/works/10.1038%2FEJHG.2008.47
retrieved: 21 January 2018
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Property / cites work
 
Property / cites work: Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A / rank
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Property / cites work: Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A / reference
stated in: Crossref
reference URL: https://api.crossref.org/works/10.1038%2FEJHG.2008.47
retrieved: 21 January 2018
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Property / cites work
 
Property / cites work: The calpain system / rank
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Property / cites work: The calpain system / reference
stated in: Crossref
reference URL: https://api.crossref.org/works/10.1038%2FEJHG.2008.47
retrieved: 21 January 2018
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Property / cites work
 
Property / cites work: Molecular diagnosis in LGMD2A: mutation analysis or protein testing? / rank
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Property / cites work: Molecular diagnosis in LGMD2A: mutation analysis or protein testing? / reference
stated in: Crossref
reference URL: https://api.crossref.org/works/10.1038%2FEJHG.2008.47
retrieved: 21 January 2018
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Property / cites work
 
Property / cites work: Characterization of monoclonal antibodies to calpain 3 and protein expression in muscle from patients with limb-girdle muscular dystrophy type 2A / rank
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Property / cites work: Characterization of monoclonal antibodies to calpain 3 and protein expression in muscle from patients with limb-girdle muscular dystrophy type 2A / reference
stated in: Crossref
reference URL: https://api.crossref.org/works/10.1038%2FEJHG.2008.47
retrieved: 21 January 2018
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Property / cites work
 
Property / cites work: Correlations between clinical severity, genotype and muscle pathology in limb girdle muscular dystrophy type 2A. / rank
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Property / cites work: Correlations between clinical severity, genotype and muscle pathology in limb girdle muscular dystrophy type 2A. / reference
stated in: Crossref
reference URL: https://api.crossref.org/works/10.1038%2FEJHG.2008.47
retrieved: 21 January 2018
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Property / cites work
 
Property / cites work: Loss of calpain-3 autocatalytic activity in LGMD2A patients with normal protein expression. / rank
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Property / cites work: Loss of calpain-3 autocatalytic activity in LGMD2A patients with normal protein expression. / reference
stated in: Crossref
reference URL: https://api.crossref.org/works/10.1038%2FEJHG.2008.47
retrieved: 21 January 2018
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Property / cites work
 
Property / cites work: Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain). / rank
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Property / cites work: Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain). / reference
stated in: Crossref
reference URL: https://api.crossref.org/works/10.1038%2FEJHG.2008.47
retrieved: 21 January 2018
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Property / cites work
 
Property / cites work: Limb-girdle muscular dystrophy: one gene with different phenotypes, one phenotype with different genes / rank
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Property / cites work: Limb-girdle muscular dystrophy: one gene with different phenotypes, one phenotype with different genes / reference
stated in: Crossref
reference URL: https://api.crossref.org/works/10.1038%2FEJHG.2008.47
retrieved: 21 January 2018
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Property / cites work
 
Property / cites work: Clinical variability in calpainopathy: what makes the difference? / rank
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Property / cites work: Clinical variability in calpainopathy: what makes the difference? / reference
stated in: Crossref
reference URL: https://api.crossref.org/works/10.1038%2FEJHG.2008.47
retrieved: 21 January 2018
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Property / cites work
 
Property / cites work: Calpainopathy-a survey of mutations and polymorphisms / rank
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Property / cites work: Calpainopathy-a survey of mutations and polymorphisms / reference
stated in: Crossref
reference URL: https://api.crossref.org/works/10.1038%2FEJHG.2008.47
retrieved: 21 January 2018
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Property / cites work
 
Property / cites work: High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark / rank
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Property / cites work: High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark / reference
stated in: Crossref
reference URL: https://api.crossref.org/works/10.1038%2FEJHG.2008.47
retrieved: 21 January 2018
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Property / cites work
 
Property / cites work: LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype. / rank
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Property / cites work: LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype. / reference
stated in: Crossref
reference URL: https://api.crossref.org/works/10.1038%2FEJHG.2008.47
retrieved: 21 January 2018
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Property / cites work
 
Property / cites work: Mutations in Czech LGMD2A patients revealed by analysis of calpain3 mRNA and their phenotypic outcome / rank
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Property / cites work: Mutations in Czech LGMD2A patients revealed by analysis of calpain3 mRNA and their phenotypic outcome / reference
stated in: Crossref
reference URL: https://api.crossref.org/works/10.1038%2FEJHG.2008.47
retrieved: 21 January 2018
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Property / cites work
 
Property / cites work: Quantitative analysis of CAPN3 transcripts in LGMD2A patients: involvement of nonsense-mediated mRNA decay. / rank
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Property / cites work: Quantitative analysis of CAPN3 transcripts in LGMD2A patients: involvement of nonsense-mediated mRNA decay. / reference
stated in: Crossref
reference URL: https://api.crossref.org/works/10.1038%2FEJHG.2008.47
retrieved: 21 January 2018
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Property / cites work
 
Property / cites work: Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics / rank
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Property / cites work: Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics / reference
stated in: Crossref
reference URL: https://api.crossref.org/works/10.1038%2FEJHG.2008.47
retrieved: 21 January 2018
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Property / cites work
 
Property / cites work: Mutations of calpain 3 gene in patients with sporadic limb-girdle muscular dystrophy in Japan. / rank
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Property / cites work: Mutations of calpain 3 gene in patients with sporadic limb-girdle muscular dystrophy in Japan. / reference
stated in: Crossref
reference URL: https://api.crossref.org/works/10.1038%2FEJHG.2008.47
retrieved: 21 January 2018
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Property / cites work
 
Property / cites work: Calpain-3 mutations in Turkey / rank
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Property / cites work: Calpain-3 mutations in Turkey / reference
stated in: Crossref
reference URL: https://api.crossref.org/works/10.1038%2FEJHG.2008.47
retrieved: 21 January 2018
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Property / cites work
 
Property / cites work: The phenotype of calpainopathy: diagnosis based on a multidisciplinary approach / rank
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Property / cites work: The phenotype of calpainopathy: diagnosis based on a multidisciplinary approach / reference
stated in: Crossref
reference URL: https://api.crossref.org/works/10.1038%2FEJHG.2008.47
retrieved: 7 January 2021
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based on heuristic: inferred from DOI database lookup
 
Property / cites work
 
Property / cites work: Novel mutations in the calpain 3 gene in Germany / rank
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Property / cites work: Novel mutations in the calpain 3 gene in Germany / reference
stated in: Crossref
reference URL: https://api.crossref.org/works/10.1038%2FEJHG.2008.47
retrieved: 7 January 2021
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based on heuristic: inferred from DOI database lookup
 
Property / cites work
 
Property / cites work: Screening of the CAPN3 gene in patients with possible LGMD2A / rank
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Property / cites work: Screening of the CAPN3 gene in patients with possible LGMD2A / reference
stated in: Crossref
reference URL: https://api.crossref.org/works/10.1038%2FEJHG.2008.47
retrieved: 7 January 2021
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based on heuristic: inferred from DOI database lookup
 
Property / cites work
 
Property / cites work: Analysis of histopathologic and molecular pathologic findings in Czech LGMD2A patients / rank
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Property / cites work: Analysis of histopathologic and molecular pathologic findings in Czech LGMD2A patients / reference
stated in: Crossref
reference URL: https://api.crossref.org/works/10.1038%2FEJHG.2008.47
retrieved: 7 January 2021
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based on heuristic: inferred from DOI database lookup
 
Property / cites work
 
Property / cites work: Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene / rank
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Property / cites work: Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene / reference
stated in: Crossref
reference URL: https://api.crossref.org/works/10.1038%2FEJHG.2008.47
retrieved: 7 January 2021
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based on heuristic: inferred from DOI database lookup
 
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Property / cites work: Whole blood RNA offers a rapid, comprehensive approach to genetic diagnosis of cardiovascular diseases. / rank
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Property / cites work: Whole blood RNA offers a rapid, comprehensive approach to genetic diagnosis of cardiovascular diseases. / reference
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reference URL: https://api.crossref.org/works/10.1038%2FEJHG.2008.47
retrieved: 7 January 2021
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based on heuristic: inferred from DOI database lookup
 
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Property / cites work: Improved splice site detection in Genie / rank
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reference URL: https://api.crossref.org/works/10.1038%2FEJHG.2008.47
retrieved: 7 January 2021
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based on heuristic: inferred from DOI database lookup
 
Property / cites work
 
Property / cites work: A family with McLeod syndrome and calpainopathy with clinically overlapping diseases / rank
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Property / cites work: A family with McLeod syndrome and calpainopathy with clinically overlapping diseases / reference
stated in: Crossref
reference URL: https://api.crossref.org/works/10.1038%2FEJHG.2008.47
retrieved: 7 January 2021
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Property / Dimensions Publication ID
 
Property / Dimensions Publication ID: 1049639655 / rank
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Property / main subject
 
Property / main subject: Denmark / rank
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Property / author
 
Property / author: John Vissing / rank
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Property / author: John Vissing / qualifier
 
Property / author: John Vissing / qualifier
object named as: John Vissing
 
Property / author: John Vissing / reference
stated in: Europe PubMed Central
PubMed publication ID: 18337726
retrieved: 15 March 2018
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reference URL: http://europepmc.org/abstract/MED/18337726
 
Property / author name string
 
John Vissing
Property / author name string: John Vissing / rank
 
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Property / author name string: John Vissing / qualifier
 
Property / author name string: John Vissing / reference
 
stated in: Europe PubMed Central
PubMed publication ID: 18337726
retrieved: 15 March 2018
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reference URL: http://europepmc.org/abstract/MED/18337726

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