(Q28270314)

English

Reduced collagen VI causes Bethlem myopathy: a heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9580662%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

Reduced collagen VI causes Bethlem myopathy: a heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9580662%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

haploinsufficiency

0 references

Bethlem myopathy

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

John F. Bateman

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9580662%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

Shireen R Lamandé

1 reference

ORCID Public Data File 2021

R J McKinlay Gardner

4

object named as

R J McKinlay Gardner

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9580662%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

author name string

S R Lamandé

1

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9580662%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

W Hutchison

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9580662%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

S P Bower

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9580662%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

E Byrne

6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9580662%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

H H Dahl

7

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9580662%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

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publication date

1 June 1998

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Europe PubMed Central

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11 November 2019

Human Molecular Genetics

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9580662%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

7

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9580662%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9580662%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

981-989

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9580662%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

Identifiers

10.1093/HMG/7.6.981

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9580662%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PubMed publication ID

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9580662%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

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