Abstract
Niemann-Pick disease type C is a clinically heterogeneous storage disorder with an unknown primary metabolic defect. We have undertaken somatic cell hybridisation experiments using skin fibroblast strains from 12 patients representing a wide clinical spectrum. Preliminary experiments using filipin staining of free cholesterol as a marker for complementation indicated the existence of one major group (group α) and one minor group (group β) represented by one mutant strain. Subsequent experiments in which sphingomyelinase activity was measured as a marker for complementation using five mutant strains showing activity consistently < 40% control levels confirmed the existence of the second group.
Original language | English (US) |
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Pages (from-to) | 317-320 |
Number of pages | 4 |
Journal | Journal of medical genetics |
Volume | 31 |
Issue number | 4 |
DOIs | |
State | Published - Apr 1994 |
Externally published | Yes |
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)