Identification of novel cystinuria mutations in pediatric patients

Journal of Pediatric Urology

Volumn 2, Issue 6, 2006, Pages 575-578

  Brauers, Eva ^a   Hozyasz, Kamil ^b   Golabek, Bozena ^b   Slowik, Malgorzata ^b   Schmidt, Christa ^c   Vester, Udo ^d   Zerres, Klaus ^a   Eggermann, Thomas ^a  

^a UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

^b INSTITUTE OF MOTHER AND CHILD   (Poland)

^c LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^d UNIVERSITY OF DUISBURG ESSEN   (Germany)

Author keywords

Cystinuria; Mutations; Pediatric patients; SLC3A1; SLC7A9

Indexed keywords

CARRIER PROTEIN; PROTEIN SLC3A1; PROTEIN SLC7A9; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ALLELE; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; CYSTINURIA; GENE DELETION; GENE DUPLICATION; GENE IDENTIFICATION; GENE MUTATION; GENETIC POLYMORPHISM; GENETIC SCREENING; HUMAN; NEPHROLITHIASIS; PATHOPHYSIOLOGY; PEDIATRICS; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; STONE FORMATION;

EID: 33750617891     PISSN: 14775131     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jpurol.2005.11.011     Document Type: Article

References (5)

1. Stapleton F.B., Mckay C.P., and Noe H.N. Urolithiasis in children: the role of hypercalciuria. Pediatr Ann 16 (1987) 980-992
2. Font-Lljitos M., Jimenez-Vidal M., Bisceglia L., Di Perna M., de Sanctis L., Rousaud F., et al. New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype. J Med Genet 42 (2005) 58-68
3. Botzenhart E., Vester U., Schmidt C., Hesse A., Halber M., Wagner C., et al. Cystinuria in children: distribution and frequencies of mutations in SLC3A1 and SLC7A9 genes. Kidney Int 62 (2002) 1136-1142
4. Schmidt C., Vester U., Wagner C., Lahme S., Hesse A., Hoyer P., et al. Significant contribution of genomic rearrangements in SLC3A1 and SLC7A9 to the etiology of cystinuria. Kidney Int 64 (2003) 1564-1572
5. Schmidt C., Vester U., Hesse A., Lahme S., Lang F., Zerres K., et al. The population-specific distribution and frequencies of genomic variants in the SLC3A1 and SLC7A9 genes and their application in molecular genetic testing of cystinuria. Urol Res 32 (2004) 75-78