Autosomal Dominant Hypocalcemia Caused by an Activating Mutation of the Calcium-Sensing Receptor Gene: The First Case Report in Korea

Hypoparathyroidism is an abnormality of calcium metabolism characterized by low serum levels of parathyroid hormone in spite of hypocalcemia. The causes of hypoparathyroidism are numerous. Activating mutations in the calcium-sensing receptor (CaSR) gene are well-known causes of familial isolated hyp...

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Bibliographische Detailangaben
Hauptverfasser: Kim, Mi Yeon, Tan, Alice Hyun Kyung, Ki, Chang-Seok, Lee, Ji In, Jang, Hye Won, Shin, Hyun Won, Kim, Sun Wook, Min, Yong-Ki, Lee, Myung-Shik, Lee, Moon-Kyu, Kim, Kwang-Won, Chung, Jae Hoon
Format: Artigo
Sprache:Inglês
Veröffentlicht: The Korean Academy of Medical Sciences 2010
Schlagworte:
Case Report
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2811305/
https://ncbi.nlm.nih.gov/pubmed/20119591
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3346/jkms.2010.25.2.317
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