Matrix-assisted laser desorption/ionization time-of-flight mass spectrometry as a rapid screening method to detect mutations causing Tay-Sachs disease.

doi:10.1002/(SICI)1097-0231(19970630)11:10<1144::AID-RCM981>3.0.CO;2-Q

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Matrix-assisted laser desorption/ionization time-of-flight mass spectrometry as a rapid screening method to detect mutations causing Tay-Sachs disease.

Rapid communications in mass spectrometry : RCM - 1 Jan 1997

Srinivasan J R, Liu Y H, Venta P J, Siemieniak D, Killeen A A, Zhu Y, Lubman D M

Abstract excerpt

Matrix-assisted laser desorption/ionization mass spectrometry (MALDI-MS) has been used as a rapid method for the detection of human genetic polymorphisms. In particular, the mutations in the human HEXA gene that cause the infantile Tay-Sachs disease have been studied using MALDI-MS to demonstrate the feasibility of this technique for use in clinical and diagnostic analysis. The protocols involved in this approach...

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