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
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Bibliographic Details
- Journal:
- Journal of biological chemistry
- Volume:
- 279
- Issue:
- 21
- Pages:
- 22624-22634
- Publication date:
- 2004-05-01
- DOI:
- EISSN:
-
1083-351X
- ISSN:
-
0021-9258
- Source identifiers:
-
21456
Item Description
- Language:
- English
- Keywords:
- Pubs id:
-
pubs:21456
- UUID:
-
uuid:697ccdb9-d8dd-404e-9c7a-079f0c57ca15
- Local pid:
- pubs:21456
- Deposit date:
- 2012-12-19
Terms of use
- Copyright date:
- 2004
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