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Study of the β hexosaminidase separation by electrophoresis in homozygote and heterozygote Tay Sachs cultured fibroblasts

par Liebaers, Ingeborg ;Vamos, Eszter ;Mandelbaum, Israel
Référence Acta clinica Belgica (Ed. multilingue), 29, 2, page (94-97)
Publication Publié, 1974

Article révisé par les pairs

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Résumé :

The electrophoretic β hexosaminidase pattern of Tay Sachs fibroblasts shows a large fraction corresponding to the B fraction of normal material, and a second fraction within the same electrophoretic mobility as the third fraction found in normal fibroblasts. The combined data of qualitative enzyme assays before and after heat inactivation and the electrophoretic pattern seem to give a reliable approach to the problem of detection of homozygote and heterozygote patients.