[Genetic heterogeneity of cystinuria. Study of 12 families].
The authors attempted to predict the genotypes of 15 cystinuric children, from the results of oral lysine loads on the propositus and the urinary excretion rates of cystine, lysine, ornithine and arginine of their parents and siblings. Type I cystinuria is more common, as well in the homozygous state, as in combination to type II or III (compound heterozygous genotypes).
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D003555:Cystinuria / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening; D005838:Genotype; D006801:Humans; D007223:Infant; D008239:Lysine; D008297:Male; D010375:Pedigree; D011110:Polymorphism, Genetic; D011237:Predictive Value of Tests
D008239:Lysine
Hétérogénéité génétique de la cystinurie. Etude de 12 familles.