Cystinuria in children: Distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes

Kidney International

Volumn 62, Issue 4, 2002, Pages 1136-1142

  Botzenhart, Elke ^a,b,c,d,e   Vester, Udo ^a,b,c,d,e   Schmidt, Christa ^a,b,c,d,e   Hesse, Albrecht ^a,b,c,d,e   Halber, Marc ^a,b,c,d,e   Wagner, Carsten ^a,b,c,d,e   Lang, Florian ^a,b,c,d,e   Hoyer, Peter ^a,b,c,d,e   Zerres, Klaus ^a,b,c,d,e   Eggermann, Thomas ^a,b,c,d,e   Bachmann, H ^e   Bokenkamp A ^e   Fischbach, M ^e   Frund S ^e   Pistor, K G ^e   Zappel, H F ^e  

^a RWTH AACHEN UNIVERSITY   (Germany)

^b UNIVERSITY OF DUISBURG ESSEN   (Germany)

^c Department of Urology   (Germany)

^d UNIVERSITY OF ZURICH   (Switzerland)

^e UNIVERSITY OF TÜBINGEN   (Germany)

Author keywords

Amino acid transport; Defective renal reabsorption; Heredity; Hyperexcretion of cystine; Nephrolithiasis; Pediatric cystinuria; Renal stone formation

Indexed keywords

AMINO ACID;

ADOLESCENT; AMINO ACID URINE LEVEL; ARTICLE; CHILD; CHROMOSOME; CHROMOSOME 1; CLINICAL ARTICLE; CLINICAL TRIAL; COHORT ANALYSIS; CONFORMATION; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; CORRELATION ANALYSIS; CYSTINURIA; DISEASE CLASSIFICATION; DISEASE SEVERITY; FAMILY; FRAMESHIFT MUTATION; GENE; GENE FREQUENCY; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC POLYMORPHISM; GREECE; HUMAN; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; RESTRICTION MAPPING; SLC3A1 GENE; SLC7A9 GENE; TURKEY (REPUBLIC);

EID: 18544390387     PISSN: 00852538     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1755.2002.00552.x     Document Type: Article

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