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Journal article

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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RP Fighting Blindness More from this funder
Fight for Sight More from this funder
Moorfields Eye Charity More from this funder
Moorfields Special Trustees More from this funder
Foundation Fighting Blindness More from this funder
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Publisher:
Elsevier Publisher's website
Journal:
American Journal of Human Genetics Journal website
Volume:
100
Issue:
4
Pages:
592-604
Publication date:
2017-03-09
Acceptance date:
2017-02-15
DOI:
EISSN:
1537-6605
ISSN:
0002-9297
Source identifiers:
691436
Language:
English
Keywords:
Pubs id:
pubs:691436
UUID:
uuid:a808a1e4-379a-4ff4-84ca-df4324613453
Local pid:
pubs:691436
Deposit date:
2017-08-15

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