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Spectrum of small mutations in the dystrophin coding region
scientific article published in July 1995
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Europe PubMed Central
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1801231
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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7611292%20AND%20SRC:MED&resulttype=core&format=json
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30 May 2020
title
Spectrum of small mutations in the dystrophin coding region
(English)
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Europe PubMed Central
PMC publication ID
1801231
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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7611292%20AND%20SRC:MED&resulttype=core&format=json
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30 May 2020
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Prior TW
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1
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1801231
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30 May 2020
Bartolo C
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2
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1801231
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30 May 2020
Pearl DK
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30 May 2020
Papp AC
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4
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30 May 2020
Snyder PJ
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5
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30 May 2020
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6
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1801231
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30 May 2020
Burghes AH
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7
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30 May 2020
Mendell JR
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8
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30 May 2020
publication date
1 July 1995
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1801231
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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7611292%20AND%20SRC:MED&resulttype=core&format=json
retrieved
30 May 2020
published in
American Journal of Human Genetics
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Europe PubMed Central
PMC publication ID
1801231
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30 May 2020
volume
57
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Europe PubMed Central
PMC publication ID
1801231
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30 May 2020
issue
1
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1801231
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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7611292%20AND%20SRC:MED&resulttype=core&format=json
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30 May 2020
page(s)
22-33
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Europe PubMed Central
PMC publication ID
1801231
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7611292%20AND%20SRC:MED&resulttype=core&format=json
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30 May 2020
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A missense mutation in the dystrophin gene in a Duchenne muscular dystrophy patient
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Exon 44 nonsense mutation in two-Duchenne muscular dystrophy brothers detected by heteroduplex analysis
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A novel point mutation (G-1 to T) in a 5' splice donor site of intron 13 of the dystrophin gene results in exon skipping and is responsible for Becker muscular dystrophy
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Identification of a point mutation and germinal mosaicism in a Duchenne muscular dystrophy family
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DXS997 localized to intron 48 of dystrophin
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On the origin of deletions and point mutations in Duchenne muscular dystrophy: most deletions arise in oogenesis and most point mutations result from events in spermatogenesis
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Are CpG sites mutation hot spots in the dystrophin gene?
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Identification of a missense mutation, single base deletion and a polymorphism in the dystrophin exon 16
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Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations
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One base deletion in the cysteine-rich domain of the dystrophin gene in Duchenne muscular dystrophy patients
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Novel small mutations along the DMD/BMD gene associated with different phenotypes
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Prevention of dystrophic pathology in mdx mice by a truncated dystrophin isoform.
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Mammalian alpha 1- and beta 1-syntrophin bind to the alternative splice-prone region of the dystrophin COOH terminus
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Syntrophin binds to an alternatively spliced exon of dystrophin
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An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus
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The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein
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Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification
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Intragenic deletions in 21 Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) families studied with the dystrophin cDNA: location of breakpoints on HindIII and BglII exon-containing fragment maps, meiotic and mitotic origin of the mut
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Complementary DNA probes for the Duchenne muscular dystrophy locus demonstrate a previously undetectable deletion in a patient with dystrophic myopathy, glycerol kinase deficiency, and congenital adrenal hypoplasia
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Molecular and phenotypic analysis of patients with deletions within the deletion-rich region of the Duchenne muscular dystrophy (DMD) gene
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The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion
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A very small frame-shifting deletion within exon 19 of the Duchenne muscular dystrophy gene
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Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin, and phenotypegenotype correlation
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Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction
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10 February 2021
Glycoprotein complex anchoring dystrophin to sarcolemma
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10 February 2021
Point mutation in the human dystrophin gene: identification through western blot analysis
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10 February 2021
Preservation of the C-terminus of dystrophin molecule in the skeletal muscle from Becker muscular dystrophy
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10 February 2021
A dinucleotide repeat polymorphism at the DMD locus
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10 February 2021
Rapid detection of CA polymorphisms in cloned DNA: application to the 5' region of the dystrophin gene
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10 February 2021
Differentiation of Duchenne and Becker muscular dystrophy phenotypes with amino- and carboxy-terminal antisera specific for dystrophin
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10 February 2021
Accurate assessment of intragenic recombination frequency within the Duchenne muscular dystrophy gene
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10 February 2021
A polymorphic CACA repeat in the 3' untranslated region of dystrophin.
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10 February 2021
An informative polymorphism detectable by polymerase chain reaction at the 3' end of the dystrophin gene
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10 February 2021
Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms
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10 February 2021
Membrane organization of the dystrophin-glycoprotein complex
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10 February 2021
Nonradioactive assay for new microsatellite polymorphisms at the 5' end of the dystrophin gene, and estimation of intragenic recombination
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10 February 2021
Is the carboxyl-terminus of dystrophin required for membrane association? A novel, severe case of duchenne muscular dystrophy
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10 February 2021
Dystrophin expression and somatic reversion in prednisone-treated and untreated Duchenne dystrophy. CIDD Study Group
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10 February 2021
Detecting single base substitutions as heteroduplex polymorphisms
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10 February 2021
Are cysteine-rich and COOH-terminal domains of dystrophin critical for sarcolemmal localization?
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10 February 2021
Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis
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10 February 2021
An intact cysteine-rich domain is required for dystrophin function
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10 February 2021
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10 February 2021
Point mutations and polymorphisms in the human dystrophin gene identified in genomic DNA sequences amplified by multiplex PCR
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10 February 2021
Somatic reversion/suppression in Duchenne muscular dystrophy (DMD): evidence supporting a frame-restoring mechanism in rare dystrophin-positive fibers
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10 February 2021
Beta-globin nonsense mutation: deficient accumulation of mRNA occurs despite normal cytoplasmic stability
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10 February 2021
Point mutations in the dystrophin gene
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10 February 2021
A truncated dystrophin lacking the C-terminal domains is localized at the muscle membrane
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10 February 2021
Determination of the exon structure of the distal portion of the dystrophin gene by vectorette PCR.
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10 February 2021
Improved detection of mutations in the p53 gene in human tumors as single-stranded conformation polymorphs and double-stranded heteroduplex DNA.
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10 February 2021
Detection of a nonsense mutation in the dystrophin gene by multiple SSCP
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801231
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10 February 2021
A 3' consensus splice mutation in the human dystrophin gene detected by a screening for intra-exonic deletions
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10 February 2021
Identification of a 2 base pair nonsense mutation causing a cryptic splice site in a DMD patient
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801231
retrieved
10 February 2021
Identifiers
DOI
10.1002/AJMG.1320570107
1 reference
stated in
Europe PubMed Central
PMC publication ID
1801231
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7611292%20AND%20SRC:MED&resulttype=core&format=json
retrieved
30 May 2020
PMC publication ID
1801231
1 reference
stated in
Europe PubMed Central
PMC publication ID
1801231
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7611292%20AND%20SRC:MED&resulttype=core&format=json
retrieved
30 May 2020
PubMed publication ID
7611292
1 reference
stated in
Europe PubMed Central
PMC publication ID
1801231
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7611292%20AND%20SRC:MED&resulttype=core&format=json
retrieved
30 May 2020
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