Cystinuria genotypes predicted from excretion patterns
- 1 January 1978
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 2 (2) , 175-190
- https://doi.org/10.1002/ajmg.1320020209
Abstract
Genotypes of 17 patients with cystinuria were predicted from data based on excretion rates of the families' obligate carriers. The methodology differed from that used by other investigators as it did not employ intestinal biopsy studies or loading dose measurements. The Type I form was more common than either Type II or Type III and frequently occurred in combination to give compound heterozygous genotypes with the Type III form.Keywords
This publication has 13 references indexed in Scilit:
- Biochemical and genetic studies in cystinuria: observations on double heterozygotes of genotype I/IIJournal of Clinical Investigation, 1971
- The excretion of amino acids by cystinuric patients and their relativesAnnals of Human Genetics, 1969
- Amino acid patterns in cystinuric families.Journal of Medical Genetics, 1968
- The Renal Clearance of Amino Acids in Cystinuria*Journal of Clinical Investigation, 1967
- Cystinuria: Genetic Heterogeneity and AllelismScience, 1966
- Cystinuria: biochemical evidence for three genetically distinct diseases.Journal of Clinical Investigation, 1966
- Heterozygotes for cystinuriaAnnals of Human Genetics, 1966
- CYSTINURIA: METABOLISM OF THE DISULFIDE OF CYSTEINE AND HOMOCYSTEINE*Journal of Clinical Investigation, 1963
- PHENOTYPES AND GENOTYPES IN CYSTINURIAAnnals of Human Genetics, 1955
- URINARY AMINO‐ACIDS IN MICE OF DIFFERENT GENOTYPESAnnals of Eugenics, 1953