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Mutations in the spliceosome component CWC27 cause retinal degeneration with or without additional developmental anomalies

Abstract:

Pre-mRNA splicing factors play a fundamental role in regulating transcript diversity both temporally and spatially. Genetic defects in several spliceosome components have been linked to a set of non-overlapping spliceosomopathy phenotypes in humans, among which skeletal developmental defects and non-syndromic retinitis pigmentosa (RP) are frequent findings. Here we report that defects in spliceosome-associated protein CWC27 are associated with a spectrum of disease phenotypes ranging from iso...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1016/j.ajhg.2017.02.008

Authors


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Name:
National Institutes of Health
Grant:
Grant Number Example
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Name:
Carlos III Institute of Health
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Name:
Beijing Natural Science Foundation
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Name:
National Natural Science Foundation of China
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Name:
Ministry of Science and Technology of the People’s Republic of China
Publisher:
Elsevier
Journal:
American Journal of Human Genetics More from this journal
Volume:
100
Issue:
4
Pages:
592-604
Publication date:
2017-03-09
Acceptance date:
2017-02-15
DOI:
EISSN:
1537-6605
ISSN:
0002-9297
Language:
English
Keywords:
Pubs id:
pubs:691436
UUID:
uuid:a808a1e4-379a-4ff4-84ca-df4324613453
Local pid:
pubs:691436
Source identifiers:
691436
Deposit date:
2017-08-15

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