Familial Isolated Hypoparathyroidism
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Publisher
Springer Milan
Link
http://link.springer.com/content/pdf/10.1007/978-88-470-5376-2_16
Reference81 articles.
1. Brandi ML (2011) Genetics of hypoparathyroidism and pseudohypoparathyroidism. J Endocrinol Invest 34(Supp l7):27–34
2. Shoback D (2008) Clinical practice. Hypoparathyroidism. N Engl J Med 359:391–403
3. McKusick V (2001) Online Mendelian inheritance in man (OMIM). Johns Hopkins University Press, Baltimore
4. Ahn TG, Antonarakis SE, Kronenberg HM, Igarashi T, Levine MA (1986) Familial isolated hypoparathyroidism: a molecular genetic analysis of 8 families with 23 affected persons. Medicine (Baltimore) 65:73–81
5. Hendy GN, Bennett HPJ, Gibbs BF et al (1995) Proparathyroid hormone (ProPTH) is preferentially cleaved to parathyroid hormone (PTH) by the prohormone convertase furin: a mass spectrometric analysis. J Biol Chem 270:9517–9525
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3. Autosomal Dominant PTH Gene Signal Sequence Mutation in a Family With Familial Isolated Hypoparathyroidism;The Journal of Clinical Endocrinology & Metabolism;2017-08-18
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