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Novel SLC5A2 Mutations and Genetic Characterization in Korean Patients with Familial Renal Glucosuria
Weon Kyung Lee, Seung Hwan Oh, Woo Yeong Chung
Child Kidney Dis2018;22(2):37-41.   Published online October 31, 2018
doi: https://doi.org/10.3339/jkspn.2018.22.2.37
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A Case of Congenital Nephrogenic Diabetes Insipidus Diagnosed by DNA Analysis
Ji Hyun Kim, Sun Ju Lee, Ae Suk Kim, Sung Min Cho, Dong Seok Lee, Doo Kwun Kim, Sung Min Choi, Chang Seok Ki, Jong Won Kim
J Korean Soc Pediatr Nephrol2005;9(2):269-274.
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A Case of Gitelman Syndrome Presented with Epileptic Seizure
Jee-Min Park, Jeong-Tae Kim, Jae-Il Shin, Heung-Dong Kim, Tae-Young Kim, Hae-Il Cheong, Jae-Seung Lee
J Korean Soc Pediatr Nephrol2004;8(1):68-73.
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Partial HPRT Deficiency Due to a Missense Mutation in the HPRT Gene
Ju-Hee Yang, Min-Hyuk Park, Deok-Soo Kim, Jae-Won Shim, Jung-Yeon Shim, Hye-Lim Jung, Han-Wook Yoo, Moon-Soo Park
J Korean Soc Pediatr Nephrol2003;7(1):86-90.
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Analysis of Vasopressin Receptor Type 2(AVPR2) Gene in a Pedigree with Congenital Nehrogenic Diabetes Insipidus : Identification of a Family with R202C Mutation in AVPR2 Gene
June-Dong Park, Ho-Sung Kim, Hee-Joo Kim, Yoon-Kyung Lee, Young-Ho Kwak, Il-Soo Ha, Hae-Il Cheong, Yong Choi, Hye-Won Park
J Korean Soc Pediatr Nephrol1999;3(2):209-216.
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