Abstract
Heterozygotes for cystinosis exhibited approximately half the normal rate of cysteine counter-transport into isolated leukocyte lysosomes. This gene-dosage effect strongly supports previous findings demonstrating that the base defect in cystinosis is impaired cystine transport across the lysosomal membrane. The method was used to determine the cystinosis carrier status for siblings of affected children in two families with cystinosis.
| Original language | English |
|---|---|
| Pages (from-to) | 277-282 |
| Number of pages | 6 |
| Journal | American Journal of Human Genetics |
| Volume | 36 |
| Issue number | 2 |
| State | Published - 1 Jan 1984 |
| Externally published | Yes |
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)