- 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...
Expand abstract - Publication status:
- Published
- Publisher copy:
- 10.1074/jbc.m401797200
-
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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
- Language:
- English
- Keywords:
- Copyright date:
- 2004
Journal article
Characterization of GATA3 mutations in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome.
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