Lens changes in hereditary hyperferritinemia-cataract syndrome (Q77156624)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11704046%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

title

Lens changes in hereditary hyperferritinemia-cataract syndrome (English)

1 reference

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hereditary hyperferritinemia with congenital cataracts

3 December 2019

main subject

1 reference

A Chang-Godinich

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11704046%20AND%20SRC:MED&resulttype=core&format=json

3 December 2019

S Ades

1 reference

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3 December 2019

D Schenkein

1 reference

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3 December 2019

D Brooks

1 reference

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3 December 2019

D Stambolian

1 reference

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3 December 2019

M B Raizman

1 reference

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3 December 2019

language of work or name

English

0 references

publication date

1 November 2001

1 reference

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American Journal of Ophthalmology

3 December 2019

published in

1 reference

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3 December 2019

volume

132

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3 December 2019

issue

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3 December 2019

page(s)

786-788

1 reference

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Bilateral cataract and high serum ferritin: a new dominant genetic disorder?

3 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2801%2901106-0

A linkage between hereditary hyperferritinaemia not related to iron overload and autosomal dominant congenital cataract

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2801%2901106-0

Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataract

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2801%2901106-0

Clinical severity and thermodynamic effects of iron-responsive element mutations in hereditary hyperferritinemia-cataract syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2801%2901106-0

A new mutation (G51C) in the iron-responsive element (IRE) of l-ferritin associated with hyperferritinaemia-cataract syndrome decreases the binding affinity of the mutated IRE for iron-regulatory proteins

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2801%2901106-0

10.1016/S0002-9394(01)01106-0

7 January 2021

Identifiers

DOI

1 reference

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3 December 2019

1 reference

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