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The spectrum of CHM gene mutations in choroideremia and their relationship to clinical phenotype

Abstract:

Purpose: We report the underlying genotype and explore possible genotypic-phenotypic correlations in a large cohort of choroideremia patients. Methods: We studied prospectively a cohort of 79 patients diagnosed within a tertiary referral service for patients with retinal dystrophies. Phenotypic evaluation consisted of clinical examination, including visual acuity and residual retinal area by fundus autofluorescence (FAF). Genotype was established by sequencing. We also investigated whether pa...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Publisher's version

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Publisher copy:
10.1167/iovs.16-20230

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Department:
Oxford, MSD, Clinical Neurosciences
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Author
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Department:
Oxford, MSD, Clinical Neurosciences
Role:
Author
More by this author
Department:
Oxford, MSD, Clinical Neurosciences
Role:
Author
More by this author
Department:
Oxford, MSD, Clinical Neurosciences
Role:
Author
More by this author
Department:
Oxford, MSD, Clinical Neurosciences
Role:
Author
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Funding agency for:
Simunovic, M
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Funding agency for:
Simunovic, M
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Publisher:
Association for Research in Vision and Ophthalmology Publisher's website
Journal:
Investigative Ophthalmology & Visual Science Journal website
Volume:
57
Issue:
14
Pages:
6033-6039
Publication date:
2016-11-01
Acceptance date:
2016-09-22
DOI:
EISSN:
1552-5783
ISSN:
0146-0404
Pubs id:
pubs:652412
URN:
uri:19e8b202-9e64-4d94-b014-516db29ce0fc
UUID:
uuid:19e8b202-9e64-4d94-b014-516db29ce0fc
Local pid:
pubs:652412
Paper number:
14
Language:
English
Keywords:

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