(Q34088135)

English

Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.

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scholarly article

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21 December 2019

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Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans (English)

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21 December 2019

osteogenesis imperfecta

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Aileen M Barnes

4

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21 December 2019

15

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21 December 2019

Raymond Dalgleish

26

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21 December 2019

27

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21 December 2019

author name string

Joan C Marini

1

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21 December 2019

Antonella Forlino

2

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21 December 2019

Wayne A Cabral

3

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21 December 2019

James D San Antonio

5

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21 December 2019

Sarah Milgrom

6

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21 December 2019

James C Hyland

7

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21 December 2019

Jarmo Körkkö

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21 December 2019

Darwin J Prockop

9

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21 December 2019

Paul Coucke

11

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21 December 2019

Sofie Symoens

12

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21 December 2019

Francis H Glorieux

13

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21 December 2019

Peter J Roughley

14

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21 December 2019

Kaija Kuurila-Svahn

16

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21 December 2019

Heini Hartikka

17

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21 December 2019

Daniel H Cohn

18

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21 December 2019

Deborah Krakow

19

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21 December 2019

Monica Mottes

20

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21 December 2019

Ulrike Schwarze

21

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21 December 2019

Diana Chen

22

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21 December 2019

Kathleen Yang

23

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21 December 2019

Christine Kuslich

24

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21 December 2019

James Troendle

25

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21 December 2019

Anne De Paepe

10

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21 December 2019

publication date

1 March 2007

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21 December 2019

1 reference

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21 December 2019

28

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21 December 2019

3

1 reference

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21 December 2019

209-221

1 reference

Europe PubMed Central

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21 December 2019

Stability related bias in residues replacing glycines within the collagen triple helix (Gly-Xaa-Yaa) in inherited connective tissue disorders

1 reference

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28 July 2018

Osteogenesis imperfecta

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4144349

28 July 2018

Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway.

1 reference

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28 July 2018

Induction of endothelial cell activation by a triple helical alpha2beta integrin ligand, derived from type I collagen alpha1(I)496-507.

1 reference

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28 July 2018

Osteogenesis imperfecta: prospects for molecular therapeutics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4144349

28 July 2018

Multiple binding sites in collagen type I for the integrins alpha1beta1 and alpha2beta1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4144349

28 July 2018

Hydrolysis of triple-helical collagen peptide models by matrix metalloproteinases

1 reference

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28 July 2018

Fibromodulin-null mice have abnormal collagen fibrils, tissue organization, and altered lumican deposition in tendon

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4144349

28 July 2018

Glycation changes the charge distribution of type I collagen fibrils

1 reference

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28 July 2018

Cartilage oligomeric matrix protein shows high affinity zinc-dependent interaction with triple helical collagen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4144349

28 July 2018

An orphan receptor tyrosine kinase family whose members serve as nonintegrin collagen receptors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4144349

28 July 2018

The discoidin domain receptor tyrosine kinases are activated by collagen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4144349

28 July 2018

Defining the domains of type I collagen involved in heparin- binding and endothelial tube formation

1 reference

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28 July 2018

Inhibition of the self-assembly of collagen I into fibrils with synthetic peptides. Demonstration that assembly is driven by specific binding sites on the monomers

1 reference

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28 July 2018

Lumican regulates collagen fibril assembly: skin fragility and corneal opacity in the absence of lumican

1 reference

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28 July 2018

Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-a

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4144349

28 July 2018

Mice that lack thrombospondin 2 display connective tissue abnormalities that are associated with disordered collagen fibrillogenesis, an increased vascular density, and a bleeding diathesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4144349

28 July 2018

Direct binding and activation of receptor tyrosine kinases by collagen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4144349

28 July 2018

The Human Collagen Mutation Database 1998.

1 reference

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28 July 2018

cDNA cloning and expression of bovine procollagen I N-proteinase: a new member of the superfamily of zinc-metalloproteinases with binding sites for cells and other matrix components.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4144349

28 July 2018

The human type I collagen mutation database

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4144349

28 July 2018

Premature chain termination is a unifying mechanism for COL1A1 null alleles in osteogenesis imperfecta type I cell strains

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4144349

28 July 2018

Nuclear retention of COL1A1 messenger RNA identifies null alleles causing mild osteogenesis imperfecta

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4144349

28 July 2018

Fibronectin binding site in type I collagen regulates fibronectin fibril formation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4144349

28 July 2018

Thermal stability and folding of the collagen triple helix and the effects of mutations in osteogenesis imperfecta on the triple helix of type I collagen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4144349

28 July 2018

Mapping the heparin-binding sites on type I collagen monomers and fibrils

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4144349

28 July 2018

Mutations in type 1 procollagen that cause osteogenesis imperfecta: effects of the mutations on the assembly of collagen into fibrils, the basis of phenotypic variations, and potential antisense therapies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4144349

28 July 2018

Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4144349

28 July 2018

Heritable diseases of collagen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4144349

28 July 2018

Proteoglycan-fibrillar collagen interactions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4144349

28 July 2018

Osteogenesis imperfecta type IV. Detection of a point mutation in one alpha 1(I) collagen allele (COL1A1) by RNA/RNA hybrid analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4144349

28 July 2018

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4144349

28 July 2018

Mutations in collagen genes: causes of rare and some common diseases in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4144349

28 July 2018

Collagen family of proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4144349

28 July 2018

Proteoglycan: collagen interactions in connective tissues. Ultrastructural, biochemical, functional and evolutionary aspects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4144349

28 July 2018

Osteogenesis imperfecta: translation of mutation to phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4144349

28 July 2018

The zipper-like folding of collagen triple helices and the effects of mutations that disrupt the zipper

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4144349

28 July 2018

Analysis of CpG suppression in methylated and nonmethylated species

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4144349

28 July 2018

Nonenzymatic glycation of type I collagen. The effects of aging on preferential glycation sites

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4144349

28 July 2018

Osteogenesis imperfecta type I is commonly due to a COL1A1 null allele of type I collagen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4144349

28 July 2018

Genetic heterogeneity in osteogenesis imperfecta

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4144349

28 July 2018

Clinical variability in osteogenesis imperfecta-variable expressivity or genetic heterogeneity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4144349

28 July 2018

Localization of the binding site for cell attachment in the alpha1(I) chain of collagen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4144349

28 July 2018

Total absence of the alpha2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4144349

28 October 2018

Procollagen trafficking, processing and fibrillogenesis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4144349

28 October 2018

Prediction of collagen stability from amino acid sequence

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4144349

28 October 2018

Alpha2beta1 integrin-specific collagen-mimetic surfaces supporting osteoblastic differentiation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4144349

28 October 2018

Standardizing mutation nomenclature: why bother?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4144349

28 October 2018

Angiogenesis in collagen I requires alpha2beta1 ligation of a GFP*GER sequence and possibly p38 MAPK activation and focal adhesion disassembly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4144349

28 October 2018

Mapping the ligand-binding sites and disease-associated mutations on the most abundant protein in the human, type I collagen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4144349

28 October 2018

Nomenclature for the description of human sequence variations.

1 reference

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28 October 2018

Decorin binds near the C terminus of type I collagen

1 reference

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28 October 2018

Nonsense mutations in the COL1A1 gene preferentially reduce nuclear levels of mRNA but not hnRNA in osteogenesis imperfecta type I cell strains.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4144349

28 October 2018

Structural requirements for fibromodulin binding to collagen and the control of type I collagen fibrillogenesis--critical roles for disulphide bonding and the C-terminal region.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4144349

28 October 2018

Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels

1 reference

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28 October 2018

Internal deletion in a collagen gene in a perinatal lethal form of osteogenesis imperfecta.

1 reference

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28 October 2018

Mutations Near Amino End of α1(I) Collagen Cause Combined Osteogenesis Imperfecta/Ehlers-Danlos Syndrome by Interference with N-propeptide Processing

1 reference

https://pubmed.ncbi.nlm.nih.gov/17078022

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The molecular genetics of collagen

1 reference

https://pubmed.ncbi.nlm.nih.gov/17078022

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of cytoplasmic and nuclear messenger RNA in fibroblasts from patients with type I osteogenesis imperfecta

1 reference

https://pubmed.ncbi.nlm.nih.gov/17078022

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sequence specific thermal stability of the collagen triple helix

1 reference

https://pubmed.ncbi.nlm.nih.gov/17078022

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Serine for glycine substitutions in type I collagen in two cases of type IV osteogenesis imperfecta (OI). Additional evidence for a regional model of OI pathophysiology

1 reference

https://pubmed.ncbi.nlm.nih.gov/17078022

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two additional cases of osteogenesis imperfecta with substitutions for glycine in the alpha 2(I) collagen chain. A regional model relating mutation location with phenotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/17078022

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular site specificity of pyridinoline and pyrrole cross-links in type I collagen of human bone

1 reference

https://pubmed.ncbi.nlm.nih.gov/17078022

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The staining pattern of collagen fibrils. I. An analysis of electron micrographs

1 reference

https://pubmed.ncbi.nlm.nih.gov/17078022

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Localization of the cell attachment region in types I and II collagens

1 reference

https://pubmed.ncbi.nlm.nih.gov/17078022

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Type I collagen-phosphophoryn interactions: specificity of the monomer-monomer binding

1 reference

https://pubmed.ncbi.nlm.nih.gov/17078022

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Peptide sequences in glutaraldehyde-linked proteodermatan sulphate: collagen fragments from rat tail tendon locate the proteoglycan binding sites

1 reference

https://pubmed.ncbi.nlm.nih.gov/17078022

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20429

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.20429

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17078022%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17078022%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17078022%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

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