Abstract
Skin fibroblasts from a patient with Fabry's disease showed deficient activity of α-galactosidase. Fibroblasts from his mother and sister had two distinct clonal populations, one with enzymatic activity and the other enzyme deficient. This provides evidence of genetic inactivation at the α-galactosidase locus and makes possible the detection of carriers of Fabry's disease even when the enzymatic activity in their leukocytes and uncloned fibroblasts is within the range of controls.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 180-181 |
| Number of pages | 2 |
| Journal | Science |
| Volume | 170 |
| Issue number | 3954 |
| DOIs | |
| State | Published - 1970 |
| Externally published | Yes |
ASJC Scopus subject areas
- General