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Journal article

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

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Publisher copy:
10.1167/iovs.16-20230

Authors


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Institution:
University of Oxford
Division:
MSD
Department:
Clinical Neurosciences
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
Clinical Neurosciences
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
Clinical Neurosciences
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
Clinical Neurosciences
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
Clinical Neurosciences
Role:
Author
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Funding agency for:
Simunovic, M
Grant:
Awards Program Fellowship
More from this funder
Funding agency for:
Simunovic, M
Grant:
Awards Program Fellowship
More from this funder
Funding agency for:
Simunovic, M
Grant:
Awards Program Fellowship
Royal College of Surgeons of Edinburgh More from this funder
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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
Source identifiers:
652412
Language:
English
Keywords:
Pubs id:
pubs:652412
UUID:
uuid:19e8b202-9e64-4d94-b014-516db29ce0fc
Local pid:
pubs:652412
Deposit date:
2017-04-11

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