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Journal article

The Opdc missense mutation of Pax2 has a milder than loss-of-function phenotype.

Abstract:

Renal-coloboma syndrome, also known as papillorenal syndrome, is an autosomal dominant human disorder in which optic disc coloboma is associated with kidney abnormalities. Mutations in the paired domain transcription factor PAX2 have been found to be the underlying cause of this disease. Disease severity varies between patients, and in some cases, renal hypoplasia has been found in the absence of any retinal defects. Here we report an N-ethyl-N-nitrosourea-induced mouse mutation, Opdc, which ...

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Publication status:
Published

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Publisher copy:
10.1093/hmg/ddq457

Authors


Coghill, EL More by this author
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Journal:
Human molecular genetics
Volume:
20
Issue:
2
Pages:
223-234
Publication date:
2011-01-05
DOI:
EISSN:
1460-2083
ISSN:
0964-6906
URN:
uuid:b01af257-f220-4c36-b597-a3351283083e
Source identifiers:
110422
Local pid:
pubs:110422

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