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Journal article

Loss-of-Function Mutations in the CFH Gene Affecting Alternatively Encoded Factor H-like 1 Protein Cause Dominant Early-Onset Macular Drusen.

Abstract:

Purpose To characterize the molecular mechanism underpinning early-onset macular drusen (EOMD), a phenotypically severe subtype of age-related macular degeneration (AMD), in a subgroup of patients. Design Multicenter case series, in vitro experimentation, and retrospective analysis of previously reported variants. Participants Seven families with apparently autosomal dominant EOMD. Methods Patients underwent a comprehensive ophthalmic assessment. Affected individuals from families A, B, an...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1016/j.ophtha.2019.03.013

Authors


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Role:
Author
ORCID:
0000-0003-2048-5693
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Institution:
University of Oxford
Division:
MSD
Sub department:
Clinical Neurosciences
Role:
Author
ORCID:
0000-0001-7373-2665
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Medical Research Council More from this funder
Publisher:
Elsevier Publisher's website
Journal:
Ophthalmology Journal website
Volume:
126
Issue:
10
Pages:
1410-1421
Publication date:
2019-03-21
Acceptance date:
2019-03-11
DOI:
EISSN:
1549-4713
ISSN:
0161-6420
Pmid:
30905644

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