Identification of the first germline HRPT2 whole-gene deletion in a patient with primary hyperparathyroidism
Author:
Publisher
Wiley
Subject
Endocrinology, Diabetes and Metabolism,Endocrinology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2265.2011.04184.x/fullpdf
Reference20 articles.
1. HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome;Carpten;Nature Genetics,2002
2. The hyperparathyroidism-jaw tumor syndrome in a Portuguese kindred;Cavaco;The Quarterly Journal of Medicine,2001
3. Hyperparathyroidism-jaw tumor syndrome in Roma families from Portugal is due to a founder mutation of the HRPT2 gene;Cavaco;The Journal of Clinical Endocrinology and Metabolism,2004
4. Uterine tumors are a phenotypic manifestation of the hyperparathyroidism-jaw tumor syndrome;Bradley;Journal of Internal Medicine,2005
5. Cell division cycle protein 73 homolog (CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors;Newey;Human Mutation,2010
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