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Journal article

Characterization of GATA3 mutations in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome.

Abstract:

The hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome is an autosomal dominant disorder caused by mutations of the dual zinc finger transcription factor, GATA3. The C-terminal zinc finger (ZnF2) binds DNA, whereas the N-terminal finger (ZnF1) stabilizes this DNA binding and interacts with other zinc finger proteins, such as the Friends of GATA (FOG). We have investigated seven HDR probands and their families for GATA3 abnormalities and have identified two nonsense mutations (Gl...

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Publication status:
Published

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Publisher copy:
10.1074/jbc.m401797200

Authors


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Institution:
University of Oxford
Department:
Oxford, MSD, RDM, OCDEM
Harding, B More by this author
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Journal:
The Journal of biological chemistry
Volume:
279
Issue:
21
Pages:
22624-22634
Publication date:
2004-05-05
DOI:
EISSN:
1083-351X
ISSN:
0021-9258
URN:
uuid:697ccdb9-d8dd-404e-9c7a-079f0c57ca15
Source identifiers:
21456
Local pid:
pubs:21456

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