(Q54522160)

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A novel founder BBS1 mutation explains a unique high prevalence of Bardet-Biedl syndrome in the Faroe Islands.

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Europe PubMed Central

PubMed publication ID

18669544

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18669544%20AND%20SRC:MED&resulttype=core&format=json

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11 January 2020

title

A novel founder BBS1 mutation explains a unique high prevalence of Bardet-Biedl syndrome in the Faroe Islands (English)

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Europe PubMed Central

PubMed publication ID

18669544

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18669544%20AND%20SRC:MED&resulttype=core&format=json

retrieved

11 January 2020

main subject

Bardet-Biedl syndrome

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2

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Europe PubMed Central

PubMed publication ID

18669544

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18669544%20AND%20SRC:MED&resulttype=core&format=json

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11 January 2020

author name string

T Duelund Hjortshøj

series ordinal

1

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Europe PubMed Central

PubMed publication ID

18669544

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18669544%20AND%20SRC:MED&resulttype=core&format=json

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11 January 2020

K Brøndum-Nielsen

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3

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Europe PubMed Central

PubMed publication ID

18669544

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18669544%20AND%20SRC:MED&resulttype=core&format=json

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11 January 2020

T Rosenberg

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4

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Europe PubMed Central

PubMed publication ID

18669544

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18669544%20AND%20SRC:MED&resulttype=core&format=json

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11 January 2020

language of work or name

English

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publication date

31 July 2008

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Europe PubMed Central

PubMed publication ID

18669544

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18669544%20AND%20SRC:MED&resulttype=core&format=json

retrieved

11 January 2020

number of pages

5

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British Journal of Ophthalmology

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Europe PubMed Central

PubMed publication ID

18669544

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18669544%20AND%20SRC:MED&resulttype=core&format=json

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11 January 2020

volume

93

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Europe PubMed Central

PubMed publication ID

18669544

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18669544%20AND%20SRC:MED&resulttype=core&format=json

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11 January 2020

issue

3

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Europe PubMed Central

PubMed publication ID

18669544

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18669544%20AND%20SRC:MED&resulttype=core&format=json

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11 January 2020

page(s)

409-413

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Europe PubMed Central

PubMed publication ID

18669544

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18669544%20AND%20SRC:MED&resulttype=core&format=json

(Q54522160)

A novel founder BBS1 mutation explains a unique high prevalence of Bardet-Biedl syndrome in the Faroe Islands.

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