(Q36172272)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18024822%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

case report

0 references

title

British family with early-onset Fuchs' endothelial corneal dystrophy associated with p.L450W mutation in the COL8A2 gene (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18024822%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

0 references

1 reference

1

1 reference

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27 December 2019

DeQuincy Prescott

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18024822%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

author name string

Bhattacharya SS

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18024822%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

Tuft SJ

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18024822%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

language of work or name

English

0 references

publication date

1 December 2007

1 reference

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British Journal of Ophthalmology

27 December 2019

published in

1 reference

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27 December 2019

volume

91

1 reference

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27 December 2019

issue

12

1 reference

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27 December 2019

page(s)

1717-1718

1 reference

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Inheritance of a novel COL8A2 mutation defines a distinct early-onset subtype of fuchs corneal dystrophy

27 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2095500

Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2095500

Inheritance of Fuchs' Combined Dystrophy

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2095500

Corneal endothelial dystrophy. A study of 64 families

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2095500

Linkage of late-onset Fuchs corneal dystrophy to a novel locus at 13pTel-13q12.13.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2095500

Fuchs corneal dystrophy: aberrant collagen distribution in an L450W mutant of the COL8A2 gene.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2095500

23 September 2018

Identifiers

DOI

10.1136/BJO.2007.115154

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18024822%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

1 reference

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27 December 2019

PubMed publication ID

18024822

1 reference