Mutation analysis of SLC3A1 and SLC7A9 genes in patients with cystinuria-Reference-Cited by-同舟云学术

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Mutation analysis of SLC3A1 and SLC7A9 genes in patients with cystinuria

Published:2015-06-30 Issue:5 Volume:43 Page:447-453
ISSN:2194-7228
Container-title:Urolithiasis
language:en
Short-container-title:Urolithiasis

Author:

Koulivand Leila,Mohammadi Mehrdad,Ezatpour Behrouz,Salehi Rasoul,Markazi Samane,Dashti Sepideh,Kheirollahi Majid

Funder

Isfahan University of Medical Sciences

Publisher

Springer Science and Business Media LLC

Subject

Urology

Link

http://link.springer.com/content/pdf/10.1007/s00240-015-0794-0.pdf

Reference32 articles.

1. Škopková Z, Hrabincová E, Štástná S, Kozák L, Adam T (2005) Molecular genetic analysis of SLC3A1 and SLC7A9 genes in Czech and Slovak cystinuric patients. Ann Hum Genet 69:501–507

2. Yuen Y, Lam C, Lai C, Tong S, Li P, Tam S, Kwan EY, Chan S, Tsang W, Chan K (2006) Heterogeneous mutations in the SLC3A1 and SLC7A9 genes in Chinese patients with cystinuria. Kidney Int 69:123–128

3. Popovska-Jankovic K, Tasic V, Bogdanovic R, Miljkovic P, Baskin E, Efremov G, Plaseska-Karanfilska D (2009) Five novel mutations in cystinuria genes SLC3A1 and SLC7A9. Balk J Med Gen 12:15–20

4. Chillarón J, Font-Llitjós M, Fort J, Zorzano A, Goldfarb DS, Nunes V, Palacín M (2010) Pathophysiology and treatment of cystinuria. Nat Rev Neurol 6:424–434

5. Kummer S, Venghaus A, Schlune A, Leube B, Eggermann T, Spiekerkoetter U (2014) Synergistic mutations in SLC3A1 and SLC7A9 leading to heterogeneous cystinuria phenotypes: pitfalls in the diagnostic workup. Pediatr Nephrol 29:155–159

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