References
Bisceglia L., Calonge M. J., Dello Strologo L., Rizzoni G., de Sanctis L., Gallucci M. et al. 1996 Molecular analysis of the cystinuria disease gene: identification of four new mutations, one large deletion, and one polymorphism. Hum. Genet. 98, 447–451.
Bisceglia L., Fischetti L., Bonis P. D., Palumbo O., Augello B., Stanziale P. et al. 2010 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. 99, 42–52.
Botzenhart E., Vester U., Schmidt C., Hesse A., Halber M. and Wagner C. 2002 Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes. Kidney Int. 62, 1136–1142.
Dello Strologo L. and Rizzoni G. 2006 Cystinuria. Acta Paediatr. Suppl. 95, 31–33.
Dello Strologo L., Pras E., Pontesilli C., Beccia E., Ricci-Barbini V., de Sanctis L. et al. 2002 Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification. J. Am. Soc. Nephrol. 13, 2547–2553.
Di Perna M., Louizou E., Fischetti L., Dedoussis G. V., Stanziale P. and Michelakakis H. 2008 Twenty-four novel mutations identified in a cohort of 85 patients by direct sequencing of the SLC3A1 and SLC7A9 cystinuria genes. Genet. Test. 12, 351–355.
Efremov G. D., Dimovski A. J., Plaseska-Karanfilska D., Simjanovska L., Sukarova E., Koceva S. and Popovski Z. 1998 Laboratory manual, 2nd edition. ICGEB Affiliated Centre Course “Nucleic Acid Based Methods in Human and Veterinary Medicine”, Skopje, Republic of Macedonia.
Font M. A., Feliubadaló L., Estivill X., Nunes V., Golomb E., Kreiss Y. et al. 2001 International Cystinuria Consortium. Functional analysis of mutations in SLC7A9, and genotype–phenotype correlation in non-Type I cystinuria. Hum. Mol. Genet. 10, 305–316.
Font-Llitjós M., Jiménez-Vidal M., Bisceglia L., Di Perna M., de Sanctis L. and Rousaud F. 2005 New insights into cystinuria: 40 new mutations, genotype–phenotype correlation, and digenic inheritance causing partial phenotype. J. Med. Genet. 42, 58–68.
Harnevik L., Fjellstedt E., Molbaek A., Tiselius H. G., Denneberg T. and Soderkvist P. 2001 Identification of 12 novel mutations in the SLC3A1 gene in Swedish cystinuria patients. Hum. Mutat. 18, 516–525.
International Cystinuria Consortium 2001 Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-type I cystinuria. Hum. Mol. Genet. 10, 305–316.
Palacín M., Goodyer P., Nunes V. and Gasparini P. 2001 Cystinuria. In The metabolic and molecular bases of inherited disease (ed. C. R. Scriver, A. L. Beaudet, W. S. Sly and D. Valle), vol. 3, pp. 4909–4932. McGraw-Hill, New York, USA.
Rosenberg L. E. 1966 Cystinuria: genetic heterogeneity and allelism. Science 154, 1341–1343.
Skopková Z., Hrabincová E., Stástná S., Kozák L. and Adam T. 2005 Molecular genetic analysis of SLC3A1 and SLC7A9 genes in Czech and Slovak cystinuric patients. Ann. Hum. Genet. 69, 501–507.
Author information
Authors and Affiliations
Corresponding authors
Additional information
[Gucev Z., Ristoska-Bojkovska N., Popovska-Jankovic K., Sukarova-Stefanovska E., Tasic V., Plaseska-Karanfilska D. and Efremov G. D. 2011 Cystinuria AA (B): digenic inheritance with three mutations in two cystinuria genes. J. Genet. 90, 157–159]
Rights and permissions
About this article
Cite this article
GUCEV, Z., RISTOSKA-BOJKOVSKA, N., POPOVSKA-JANKOVIC, K. et al. Cystinuria AA (B): digenic inheritance with three mutations in two cystinuria genes. J Genet 90, 157–159 (2011). https://doi.org/10.1007/s12041-011-0045-2
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s12041-011-0045-2