(Q81359479)

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Identification of a novel mutation in the L-ferritin IRE leading to hereditary hyperferritinemia-cataract syndrome

scientific article published on 01 April 2005

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Europe PubMed Central

PubMed publication ID

15690351

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15690351%20AND%20SRC:MED&resulttype=core&format=json

retrieved

8 January 2020

title

Identification of a novel mutation in the L-ferritin IRE leading to hereditary hyperferritinemia-cataract syndrome (English)

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stated in

Europe PubMed Central

PubMed publication ID

15690351

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15690351%20AND%20SRC:MED&resulttype=core&format=json

retrieved

8 January 2020

main subject

hereditary hyperferritinemia with congenital cataracts

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John D Phillips

1

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Europe PubMed Central

PubMed publication ID

15690351

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15690351%20AND%20SRC:MED&resulttype=core&format=json

retrieved

8 January 2020

Christy A Warby

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2

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Europe PubMed Central

PubMed publication ID

15690351

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15690351%20AND%20SRC:MED&resulttype=core&format=json

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8 January 2020

James P Kushner

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3

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Europe PubMed Central

PubMed publication ID

15690351

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15690351%20AND%20SRC:MED&resulttype=core&format=json

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8 January 2020

publication date

1 April 2005

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Europe PubMed Central

PubMed publication ID

15690351

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15690351%20AND%20SRC:MED&resulttype=core&format=json

retrieved

8 January 2020

published in

American Journal of Medical Genetics

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Europe PubMed Central

PubMed publication ID

15690351

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15690351%20AND%20SRC:MED&resulttype=core&format=json

retrieved

8 January 2020

volume

134A

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Europe PubMed Central

PubMed publication ID

15690351

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15690351%20AND%20SRC:MED&resulttype=core&format=json

retrieved

8 January 2020

issue

1

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Europe PubMed Central

PubMed publication ID

15690351

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15690351%20AND%20SRC:MED&resulttype=core&format=json

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8 January 2020

page(s)

77-79

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Europe PubMed Central

PubMed publication ID

15690351

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15690351%20AND%20SRC:MED&resulttype=core&format=json

retrieved

8 January 2020

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DOI

10.1002/AJMG.A.30425

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Europe PubMed Central

PubMed publication ID

15690351

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15690351%20AND%20SRC:MED&resulttype=core&format=json

retrieved

8 January 2020

PubMed publication ID

15690351

1 reference

stated in

Europe PubMed Central

PubMed publication ID

15690351

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15690351%20AND%20SRC:MED&resulttype=core&format=json

(Q81359479)

Identification of a novel mutation in the L-ferritin IRE leading to hereditary hyperferritinemia-cataract syndrome

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