Halley, D.J.J.

patient mutation tuberin enzyme hamartin fibroblast variant study activity protein disease lysosomal analysis family tsc 1 lysosomal enzymes result table hexosaminidase deficiency change genet syndrome tuberou phenotype sclerosis substitution function expression uptake wild-type tuberous sclerosis figure response group chromosome experiment tsc 2 fibrosis tsc 2 gene medium interaction control defect parent extracellular netherland number deletion tsc 1 gene chloride diagnosis secretion binding gst -14-3-3␨ beads intracellular phosphorylation tsc 1 variants hydrolase fraction tsc 2 variants x syndrome children missense signal neufeld culture acid substitutions individual lysosome region genetic complication presence sandhoff cf patients recognition domain membrane chloride secretion