- A Korean Family of Hypokalemic Periodic Paralysis with Mutation in a Voltage-gated Calcium Channel (R1239G)
-
Kim JB, Lee KY, Hur JK
- KMID: 1781747
- J Korean Med Sci.
- 2005 Feb;20(1):162-165.
- doi: 10.3346/jkms.2005.20.1.162
Hypokalemic periodic paralysis (HOPP) is a rare disease characterized by reversible attacks of muscle weakness accompanied by episodic hypokalemia. Recent molecular work has revealed that the majority of familial HOPP... -
- CITED
-
- Close
- SHARE
-
- Close
- X-linked Severe Combined Immunodeficiency Syndrome: The First Korean Case with gamma c Chain Gene Mutation and Subsequent Genetic Counseling
-
Jo EK, Kumaki S, Wei D, Tsuchiya S, Kanegane H, Song CH, Noh HY, Kim YO, Kim SY, Chung HY, Kim YH, Kook H
- KMID: 1785705
- J Korean Med Sci.
- 2004 Feb;19(1):123-126.
- doi: 10.3346/jkms.2004.19.1.123
X-linked severe combined immunodeficiency (X-SCID) is a rare, life-threatening immune disorder, caused by mutations in the gamma c chain gene, which encodes an essential component of the cytokine receptors for... -
- CITED
-
- Close
- SHARE
-
- Close
