(Q54748178)

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A rare homozygous rhodopsin splice-site mutation: the issue of when and whether to offer presymptomatic testing.

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Europe PubMed Central

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14566652

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14566652%20AND%20SRC:MED&resulttype=core&format=json

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20 December 2019

title

A rare homozygous rhodopsin splice-site mutation: the issue of when and whether to offer presymptomatic testing (English)

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stated in

Europe PubMed Central

PubMed ID

14566652

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14566652%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

1 reference

3

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Europe PubMed Central

PubMed ID

14566652

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14566652%20AND%20SRC:MED&resulttype=core&format=json

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20 December 2019

Lisa Roberts

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2

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Europe PubMed Central

PubMed ID

14566652

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14566652%20AND%20SRC:MED&resulttype=core&format=json

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20 December 2019

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J Greenberg

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1

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Europe PubMed Central

PubMed ID

14566652

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14566652%20AND%20SRC:MED&resulttype=core&format=json

retrieved

20 December 2019

publication date

1 December 2003

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Europe PubMed Central

PubMed ID

14566652

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14566652%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

1 reference

Europe PubMed Central

PubMed ID

14566652

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14566652%20AND%20SRC:MED&resulttype=core&format=json

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20 December 2019

volume

24

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PubMed ID

14566652

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14566652%20AND%20SRC:MED&resulttype=core&format=json

retrieved

20 December 2019

issue

4

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Europe PubMed Central

PubMed ID

14566652

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14566652%20AND%20SRC:MED&resulttype=core&format=json

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20 December 2019

page(s)

225-232

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Europe PubMed Central

PubMed ID

14566652

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14566652%20AND%20SRC:MED&resulttype=core&format=json

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20 December 2019

cites work

A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa

1 reference

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Crossref

reference URL

https://api.crossref.org/works/10.1076%2FOPGE.24.4.225.17235

retrieved

21 January 2018

Prenatal diagnosis of a rhodopsin mutation using chemical cleavage of the mismatch

1 reference

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Crossref

reference URL

https://api.crossref.org/works/10.1076%2FOPGE.24.4.225.17235

retrieved

21 January 2018

(Q54748178)

A rare homozygous rhodopsin splice-site mutation: the issue of when and whether to offer presymptomatic testing.

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