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Mutations in extracellular matrix molecules
scientific article published on 01 October 1998
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scholarly article
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Europe PubMed Central
PubMed publication ID
9818168
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9818168%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 December 2019
review article
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title
Mutations in extracellular matrix molecules
(English)
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Europe PubMed Central
PubMed publication ID
9818168
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9818168%20AND%20SRC:MED&resulttype=core&format=json
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6 December 2019
author name string
J P Gorski
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1
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Europe PubMed Central
PubMed publication ID
9818168
reference URL
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6 December 2019
B R Olsen
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2
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Europe PubMed Central
PubMed publication ID
9818168
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publication date
1 October 1998
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PubMed publication ID
9818168
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6 December 2019
published in
Current Opinion in Cell Biology
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Europe PubMed Central
PubMed publication ID
9818168
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6 December 2019
volume
10
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Europe PubMed Central
PubMed publication ID
9818168
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9818168%20AND%20SRC:MED&resulttype=core&format=json
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issue
5
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Europe PubMed Central
PubMed publication ID
9818168
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9818168%20AND%20SRC:MED&resulttype=core&format=json
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6 December 2019
page(s)
586-593
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Europe PubMed Central
PubMed publication ID
9818168
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6 December 2019
cites work
New insights into the function of collagens from genetic analysis
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The dermal-epidermal junction
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Three muscular dystrophies: loss of cytoskeleton-extracellular matrix linkage.
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Heritable diseases of the skeleton. Part II: Molecular insights into skeletal development-matrix components and their homeostasis.
1 reference
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Crossref
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7 January 2021
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The Human Collagen Mutation Database 1998.
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Crossref
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Mice develop normally without tenascin
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Hemidesmosomes: roles in adhesion, signaling and human diseases
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Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures
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Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy
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Crossref
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7 January 2021
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Benign myopathy, with autosomal dominant inheritance. A report on three pedigrees
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Connective-tissue macromolecules in Golgi chicken tendon organs and at their interface with muscle fibers and adjoining tendinous structures
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Crossref
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7 January 2021
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Immunochemistry, genuine size and tissue localization of collagen VI.
1 reference
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Crossref
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7 January 2021
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Alternative splicing of VWFA modules generates variants of type VI collagen alpha 3 chain with a distinctive expression pattern in embryonic chicken tissues and potentially different adhesive function
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Crossref
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7 January 2021
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A homozygous mutation in the integrin alpha6 gene in junctional epidermolysis bullosa with pyloric atresia
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7 January 2021
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Homozygous alpha6 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresia
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7 January 2021
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Mutations in the integrin alpha7 gene cause congenital myopathy
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Crossref
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7 January 2021
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Alpha 6 beta 4 integrin heterodimer is a component of hemidesmosomes
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Crossref
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7 January 2021
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inferred from DOI database lookup
Integrin alpha 6/beta 4 complex is located in hemidesmosomes, suggesting a major role in epidermal cell-basement membrane adhesion
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0955-0674%2898%2980033-1
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7 January 2021
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inferred from DOI database lookup
Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0955-0674%2898%2980033-1
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7 January 2021
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inferred from DOI database lookup
Absence of integrin alpha 6 leads to epidermolysis bullosa and neonatal death in mice.
1 reference
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Crossref
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7 January 2021
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inferred from DOI database lookup
Epithelial detachment due to absence of hemidesmosomes in integrin beta 4 null mice
1 reference
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Crossref
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https://api.crossref.org/works/10.1016%2FS0955-0674%2898%2980033-1
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7 January 2021
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inferred from DOI database lookup
A novel beta 1 integrin isoform produced by alternative splicing: unique expression in cardiac and skeletal muscle
1 reference
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Crossref
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7 January 2021
based on heuristic
inferred from DOI database lookup
Absence of integrin alpha 7 causes a novel form of muscular dystrophy
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0955-0674%2898%2980033-1
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7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy
1 reference
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Crossref
reference URL
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7 January 2021
based on heuristic
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Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0955-0674%2898%2980033-1
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7 January 2021
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Characterization of delta-sarcoglycan, a novel component of the oligomeric sarcoglycan complex involved in limb-girdle muscular dystrophy
1 reference
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Crossref
reference URL
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7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0955-0674%2898%2980033-1
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7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in the sarcoglycan genes in patients with myopathy
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0955-0674%2898%2980033-1
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7 January 2021
based on heuristic
inferred from DOI database lookup
Caveolae and caveolins
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0955-0674%2898%2980033-1
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7 January 2021
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inferred from DOI database lookup
Expression of caveolin-3 in skeletal, cardiac, and smooth muscle cells. Caveolin-3 is a component of the sarcolemma and co-fractionates with dystrophin and dystrophin-associated glycoproteins
1 reference
stated in
Crossref
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7 January 2021
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Type I procollagen: the gene-protein system that harbors most of the mutations causing osteogenesis imperfecta and probably more common heritable disorders of connective tissue.
1 reference
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Crossref
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7 January 2021
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Sarcospan, the 25-kDa transmembrane component of the dystrophin-glycoprotein complex
1 reference
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Crossref
reference URL
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7 January 2021
based on heuristic
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A homozygous nonsense mutation in the PLEC1 gene in patients with epidermolysis bullosa simplex with muscular dystrophy
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0955-0674%2898%2980033-1
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7 January 2021
based on heuristic
inferred from DOI database lookup
Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0955-0674%2898%2980033-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Plectin deficiency results in muscular dystrophy with epidermolysis bullosa
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0955-0674%2898%2980033-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Targeted inactivation of plectin reveals essential function in maintaining the integrity of skin, muscle, and heart cytoarchitecture
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0955-0674%2898%2980033-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Plectin sidearms mediate interaction of intermediate filaments with microtubules and other components of the cytoskeleton
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0955-0674%2898%2980033-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Heritable diseases of the skeleton. Part I: Molecular insights into skeletal development-transcription factors and signaling pathways.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0955-0674%2898%2980033-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cbfa1, a candidate gene for cleidocranial dysplasia syndrome, is essential for osteoblast differentiation and bone development
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0955-0674%2898%2980033-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Targeted disruption of Cbfa1 results in a complete lack of bone formation owing to maturational arrest of osteoblasts
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0955-0674%2898%2980033-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Osf2/Cbfa1: a transcriptional activator of osteoblast differentiation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0955-0674%2898%2980033-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0955-0674%2898%2980033-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Spatiotemporal pattern of type X collagen gene expression and collagen deposition in embryonic chick vertebrae undergoing endochondral ossification
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0955-0674%2898%2980033-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Regulation of rate of cartilage differentiation by Indian hedgehog and PTH-related protein
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0955-0674%2898%2980033-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Novel regulators of bone formation: molecular clones and activities
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0955-0674%2898%2980033-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Limb alterations in brachypodism mice due to mutations in a new member of the TGF beta-superfamily
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0955-0674%2898%2980033-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A human chondrodysplasia due to a mutation in a TGF-beta superfamily member
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0955-0674%2898%2980033-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0955-0674%2898%2980033-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0955-0674%2898%2980033-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0955-0674%2898%2980033-1
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7 January 2021
based on heuristic
inferred from DOI database lookup
Disruption of the Hoxd-13 gene induces localized heterochrony leading to mice with neotenic limbs
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0955-0674%2898%2980033-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Synpolydactyly in mice with a targeted deficiency in the HoxD complex
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0955-0674%2898%2980033-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A new spontaneous mouse mutation of Hoxd13 with a polyalanine expansion and phenotype similar to human synpolydactyly
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0955-0674%2898%2980033-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Spondylometaphyseal dysplasia in mice carrying a dominant negative mutation in a matrix protein specific for cartilage-to-bone transition
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0955-0674%2898%2980033-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A type X collagen mutation causes Schmid metaphyseal chondrodysplasia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0955-0674%2898%2980033-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Normal long bone growth and development in type X collagen-null mice
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0955-0674%2898%2980033-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Site-directed mutagenesis of human type X collagen. Expression of alpha1(X) NC1, NC2, and helical mutations in vitro and in transfected cells
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0955-0674%2898%2980033-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A nonsense mutation in the carboxyl-terminal domain of type X collagen causes haploinsufficiency in schmid metaphyseal chondrodysplasia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0955-0674%2898%2980033-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1016/S0955-0674(98)80033-1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9818168
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9818168%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 December 2019
PubMed publication ID
9818168
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9818168
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9818168%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 December 2019
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