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Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy.

Abstract:

Leber Congenital Amaurosis (LCA) and Early Childhood Onset Severe Retinal Dystrophy are clinically and genetically heterogeneous retinal disorders characterised by visual impairment and nystagmus from birth or early infancy. We investigated the prevalence of sequence variants in AIPL1 in a large cohort of such patients (n=392) and probed the likelihood of disease-causation of the identified variants, subsequently undertaking a detailed assessment of the phenotype of patients with disease-caus...

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

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Publisher copy:
10.1371/journal.pone.0032330

Authors


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Foundation Fighting Blindness More from this funder
Moorfields Special Trustees More from this funder
Fight for Sight More from this funder
European Union More from this funder
National Institute for Health Research UK More from this funder
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Publisher:
Public Library of Science Publisher's website
Journal:
PloS one Journal website
Volume:
7
Issue:
3
Pages:
e32330
Publication date:
2012-01-01
DOI:
EISSN:
1932-6203
ISSN:
1932-6203
URN:
uuid:559506b0-6e8f-4a24-8b0a-62d63454e4ee
Source identifiers:
316294
Local pid:
pubs:316294

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