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2 new cases of pontocerebellar hypoplasia type 10 identified by whole exome sequencing in a Turkish family

Abstract:

Pontocerebellar hypoplasia type 10 (PCH10) is a progressive autosomal recessive neurodegenerative disorder that has been recently described in association with cleavage and polyadenylation factor I subunit 1 (CLP1) mutations. To date, all reported cases have the same homozygous missense mutation in the CLP1 gene suggesting a founder mutation. CLP1 is an RNA kinase involved in tRNA splicing and maturation. There is evidence that the mutation is associated with functionally impaired kinase acti...

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

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Publisher copy:
10.1016/j.ejmg.2018.01.002

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Institution:
University of Oxford
Role:
Author
More by this author
Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
RDM; RDM Strategic
Oxford college:
Green Templeton College
Role:
Author
Publisher:
Elsevier Publisher's website
Journal:
European Journal of Medical Genetics Journal website
Volume:
61
Issue:
5
Pages:
273-279
Publication date:
2018-01-03
Acceptance date:
2018-01-01
DOI:
EISSN:
1878-0849
ISSN:
1769-7212
Pubs id:
pubs:817295
URN:
uri:a587005b-1a16-4e13-96c1-89fcf4d155c7
UUID:
uuid:a587005b-1a16-4e13-96c1-89fcf4d155c7
Local pid:
pubs:817295

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