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Hypomorphic PCNA mutation underlies a human DNA repair disorder

Abstract:

Numerous human disorders, including Cockayne syndrome, UV-sensitive syndrome, xeroderma pigmentosum, and trichothiodystrophy, result from the mutation of genes encoding molecules important for nucleotide excision repair. Here, we describe a syndrome in which the cardinal clinical features include short stature, hearing loss, premature aging, telangiectasia, neurodegeneration, and photosensitivity, resulting from a homozygous missense (p.Ser228Ile) sequence alteration of the proliferating cell...

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Publisher copy:
10.1172/JCI74593

Authors


Chambers, H More by this author
Fawcett, H More by this author
Nakazawa, Y More by this author
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Publisher:
American Society for Clinical Investigation
Journal:
Journal of Clinical Investigation
Volume:
124
Issue:
7
Pages:
3137-3146
Publication date:
2014-07-01
DOI:
EISSN:
1558-8238
ISSN:
0021-9738
URN:
uuid:5c8b0844-487a-4f79-a88b-2e0ee1f7696b
Source identifiers:
476966
Local pid:
pubs:476966
Language:
English

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