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Clinical Course and Mutational Analysis of Patients with Cystine Stone: A Single-Center Experience

Cystinuria is a known genetic disorder. To date, two genes, SLC3A1 and SLC7A9, have been identified as causes of cystinuria. In this study of 10 patients with cystinuria, which is the largest Korean cohort ever studied, we examined the patients’ phenotypes, clinical courses, and genetic analyses. A...

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Bibliografische Detailangaben
Hauptverfasser: Jae Yong Jeong, Kyung Jin Oh, Jun Seok Sohn, Dae Young Jun, Jae Il Shin, Keum Hwa Lee, Joo Yong Lee
Format: Artigo
Sprache:Inglês
Veröffentlicht: MDPI AG 2023-10-01
Schriftenreihe:Biomedicines
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Online-Zugang:https://www.mdpi.com/2227-9059/11/10/2747
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