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Novel non-contiguous exon duplication in choroideremia

Abstract:

The importance of establishing a genetic diagnosis in patients with a choroideremia phenotype has been underscored by the advent of gene replacement therapy for this condition. Here, we describe a complex imbalance at the CHM locus in a male patient with classical disease. At the DNA level, this imbalance consists of 2 non-contiguous duplications (exons 1-2 and 9-12). Further characterization suggests the generation of 2 independent CHM transcriptional units, one of which may produce a delete...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Accepted manuscript

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Publisher copy:
10.1111/cge.13021

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Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Neurosciences
Role:
Author
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Neurosciences
Role:
Author
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Neurosciences
Role:
Author
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Nuffield Trust More from this funder
Oxford University Hospitals Foundation Trust, NIHR Biomedical Research Centre More from this funder
Fight for Sight More from this funder
Publisher:
Wiley Publisher's website
Journal:
Clinical Genetics Journal website
Volume:
93
Issue:
1
Pages:
144–148
Publication date:
2017-04-19
Acceptance date:
2017-03-23
DOI:
EISSN:
1399-0004
ISSN:
0009-9163
Pubs id:
pubs:688738
URN:
uri:f58e37db-ff8b-4553-86b9-459fdec874ab
UUID:
uuid:f58e37db-ff8b-4553-86b9-459fdec874ab
Local pid:
pubs:688738
Paper number:
1

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