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HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome.

Abstract:

We report here the identification of a gene associated with the hyperparathyroidism-jaw tumor (HPT-JT) syndrome. A single locus associated with HPT-JT (HRPT2) was previously mapped to chromosomal region 1q25-q32. We refined this region to a critical interval of 12 cM by genotyping in 26 affected kindreds. Using a positional candidate approach, we identified thirteen different heterozygous, germline, inactivating mutations in a single gene in fourteen families with HPT-JT. The proposed role of...

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Publication status:
Published

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Publisher copy:
10.1038/ng1048

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Journal:
Nature genetics More from this journal
Volume:
32
Issue:
4
Pages:
676-680
Publication date:
2002-12-01
DOI:
EISSN:
1546-1718
ISSN:
1061-4036

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