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Journal article

Cell division cycle protein 73 homolog (CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors.

Abstract:

The hyperparathyroidism-jaw tumor (HPT-JT) syndrome is an autosomal dominant disorder characterized by the occurrence of parathyroid tumors in association with ossifying fibromas of the maxilla and/or mandible. The gene responsible for HPT-JT, known as CDC73, was identified in 2002 and encodes a 531 amino acid protein known as parafibromin. Parafibromin is predominantly a nuclear protein that interacts directly with beta-catenin and also forms part of the RNA polymerase associated factor-1 co...

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Publication status:
Published

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Publisher copy:
10.1002/humu.21188

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Institution:
University of Oxford
Department:
Oxford, MSD, RDM, OCDEM
Role:
Author
Journal:
Human mutation
Volume:
31
Issue:
3
Pages:
295-307
Publication date:
2010-03-05
DOI:
EISSN:
1098-1004
ISSN:
1059-7794
URN:
uuid:6fa7398e-2633-45b1-ae79-795b827ea369
Source identifiers:
35048
Local pid:
pubs:35048

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