Note to users. If you're seeing this message, it means that your browser cannot find this page's style/presentation instructions -- or possibly that you are using a browser that does not support current Web standards. Find out more about why this message is appearing, and what you can do to make your experience of our site the best it can be.

Science 9 December 1966:
Vol. 154. no. 3754, pp. 1341 - 1343
DOI: 10.1126/science.154.3754.1341
Prev | Table of Contents | Next

Articles

Cystinuria: Genetic Heterogeneity and Allelism

Leon E. Rosenberg 1

1 Department of Medicine, Yale University School of Medicine, New Haven, Connecticut

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-I, 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.


THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES:
Cystine calculi: challenging group of stones.
K. Ahmed, P. Dasgupta, and M. S. Khan (2006)
Postgrad. Med. J. 82, 799-801
   Abstract »    Full Text »    PDF »
Comparison between SLC3A1 and SLC7A9 Cystinuria Patients and Carriers: A Need for a New Classification.
L. D. Strologo, E. Pras, C. Pontesilli, E. Beccia, V. Ricci-Barbini, L. de Sanctis, A. Ponzone, M. Gallucci, L. Bisceglia, L. Zelante, et al. (2002)
J. Am. Soc. Nephrol. 13, 2547-2553
   Abstract »    Full Text »    PDF »
Inborn Errors of Metabolism: Variability within Single Diseases.
(1971)
Clinical Pediatrics 10, 1-3
   PDF »
Use of Human Genetic Variation to Study Membrane Transport of Amino Acids in Kidney.
C. R. Scriver (1969)
Arch Pediatr Adolesc Med 117, 4-12
   Abstract »    PDF »
Aminoaciduria Resulting from Cycloleucine Administration in Man.
R. R. Brown (1967)
Science 157, 432-434
   Abstract »    PDF »


To Advertise     Find Products

Science. ISSN 0036-8075 (print), 1095-9203 (online)