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TSC1 gene mutation; hamartin gene mutation
Clinical manifestations:
- mutations in TSC1 are associated with
a) tuberous sclerosis
b) focal cortical dysplasia of Taylor balloon cell type
Related
Hamartin; tuberous sclerosis 1 protein (TSC1, KIAA0243, TSC)
TSC1 gene
General
gene mutation testing; gene mutation analysis
References
Loinc