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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Detalles Bibliográficos
Autores principales: 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
Formato: Texto
Lenguaje:English
Publicado: The Korean Academy of Medical Sciences 2010
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2811305/
https://www.ncbi.nlm.nih.gov/pubmed/20119591
http://dx.doi.org/10.3346/jkms.2010.25.2.317

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2811305/
https://www.ncbi.nlm.nih.gov/pubmed/20119591
http://dx.doi.org/10.3346/jkms.2010.25.2.317

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