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Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours.

Abstract:

OBJECTIVE: To investigate two patients with the hyperparathyroidism-jaw tumour (HPT-JT) syndrome and three patients with familial isolated hyperparathyroidism (FIHP), together with 31 parathyroid tumours (2 HPT-JT, 2 FIHP and 27 sporadic) for HRPT2 mutations. The HPT-JT syndrome and FIHP are autosomal dominant disorders that may be caused by abnormalities of the HRPT2 gene, located on chromosome 1q31.2. HRPT2 encodes a 531 amino acid protein, parafibromin, which interacts with human homologue...

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Publication status:
Published

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Authors


Bradley, KJ More by this author
Cavaco, BM More by this author
Harding, B More by this author
Cranston, T More by this author
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Journal:
Clinical endocrinology
Volume:
64
Issue:
3
Pages:
299-306
Publication date:
2006-03-05
DOI:
EISSN:
1365-2265
ISSN:
0300-0664
URN:
uuid:5d557ed6-105c-4413-ac15-2a89550d0a4e
Source identifiers:
18965
Local pid:
pubs:18965

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