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Genotype and Phenotype Analysis in Pediatric Patients with Cystinuria
Ji Hyun Kim, Eujin Park, Hye Sun Hyun, Beom Hee Lee, Gu-Hwan Kim, Joo Hoon Lee, Young Seo Park, Hee Gyung Kang, Il-Soo Ha, Hae Il Cheong
J Korean Med Sci.2017;32(2):310-314. Published online 2016 November 28
DOI: http://dx.doi.org/10.3346/jkms.2017.32.2.310
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2 |
Non-Type I Cystinuria Associated with Mental retardation and Ataxia in a Korean Boy with a New Missence Mutation(G173R) in the SLC7A9 Gene
Eun Ha Lee, Yeun Hee Kim, Jin Soon Hwang, Sung Hwan Kim
J Korean Med Sci.2010;25(1):172-175. Published online 2009 December 26
DOI: http://dx.doi.org/10.3346/jkms.2010.25.1.172
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