Genotype and Phenotype Analysis in Pediatric Patients with Cystinuria

Cystinuria is an inherited disorder characterized by defective renal reabsorption of cystine and dibasic amino acids leading to nephrolithiasis. This study was conducted to analyze the genotypes and phenotypes of pediatric patients with cystinuria. Eight children from Seoul National University Hospi...

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Veröffentlicht in:J Korean Med Sci
Hauptverfasser: Kim, Ji Hyun, Park, Eujin, Hyun, Hye Sun, Lee, Beom Hee, Kim, Gu-Hwan, Lee, Joo Hoon, Park, Young Seo, Kang, Hee Gyung, Ha, Il-Soo, Cheong, Hae Il
Format: Artigo
Sprache:Inglês
Veröffentlicht: The Korean Academy of Medical Sciences 2017
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Original Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5219998/
https://ncbi.nlm.nih.gov/pubmed/28049243
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3346/jkms.2017.32.2.310
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