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. 2012 Feb;20(2).

doi: 10.1038/ejhg.2011.163. Epub 2011 Aug 24.

Clinical utility gene card for: Cystinuria

Thomas Eggermann¹, Klaus Zerres, Virginia Nunes, Mariona Font-Llitjós, Luigi Bisceglia, Anthoula Chatzikyriakidou, Luca dello Strologo, Elon Pras, John Creemers, Manuel Palacin

Affiliations

PMID: 21863055
PMCID: PMC3260922
DOI: 10.1038/ejhg.2011.163

Clinical utility gene card for: Cystinuria

Thomas Eggermann et al. Eur J Hum Genet. 2012 Feb.

. 2012 Feb;20(2).

doi: 10.1038/ejhg.2011.163. Epub 2011 Aug 24.

Authors

Thomas Eggermann¹, Klaus Zerres, Virginia Nunes, Mariona Font-Llitjós, Luigi Bisceglia, Anthoula Chatzikyriakidou, Luca dello Strologo, Elon Pras, John Creemers, Manuel Palacin

Affiliation

¹ Institut für Humangenetik, RWTH Aachen, Aachen, Germany. teggermann@ukaachen.de

PMID: 21863055
PMCID: PMC3260922
DOI: 10.1038/ejhg.2011.163

No abstract available

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References

1. Bisceglia L, Fischetti L, Bonis PD, et al. Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patients. Mol Genet Metab. 2010;99:42–52. - PubMed
1. Calonge MJ, Gasparini P, Chillarón J, et al. Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine. Nat Genet. 1994;6:420–425. - PubMed
1. Chatzikyriakidou A, Sofikitis N, Kalfakakou V, Siamopoulos K, Georgiou I. Evidence for association of SLC7A9 gene haplotypes with cystinuria manifestation in SLC7A9 mutation carriers. Urol Res. 2006;34:299–303. - PubMed
1. Chillarón J, Font-Llitjós M, Fort J, et al. Pathophysiology and treatment of cystinuria. Nat Rev Nephrol. 2010;6:424–444. - PubMed
1. Dello Strologo L, Pras E, Pontesilli C, et al. Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification. Am Soc Nephrol. 2002;13:2547–2553. - PubMed

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