Clinical, biochemical and molecular details of the Indian patients with Tay Sachs disease.
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*DNA of index case is not available, HLC-heat labile activity in carrier parents, ND – not done.Normal total hexosaminidase values using MUG substrate in our controls –703 to 1785 nmol/hr/mg protein, normal hexosaminidase A levels – (62 to 77%); normal MUGS activity 80 to 390 nmol/hr/mg.
创建时间：
2015-12-02
