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Cystinuria: Genetic Heterogeneity and Allelism

Leon E. Rosenberg
Science
New Series, Vol. 154, No. 3754 (Dec. 9, 1966), pp. 1341-1343
Stable URL: http://www.jstor.org/stable/1720357
Page Count: 3
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Cystinuria: Genetic Heterogeneity and Allelism
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Abstract

Studies of four stoneforming cystinuric subjects from three unrelated pedigrees indicated that each was heterozygous for two of the three described mutant genes producing cystinuria (I, II, III). Their genotypes were I-II, II-III, I-III, and I-III, respectively. These doubly heterozygous patients were phenotypically indistinguishable from cystinuric homozygotes of genotype I-I, II-II, or III-III. The data provide the first direct evidence that all of the known mutations responsible for the genetic heterogeneity in cystinuria are allelic.

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