A novel 4-bp deletion creates a premature stop codon and dramatically decreases HEXB mRNA levels in a severe case of Sandhoff disease

Author: Gomez-Lira M.   Mottes M.   Perusi C.   Pignatti P.F.   Rizzuto N.   Gatti R.   Salviati A.  

Publisher: Academic Press

ISSN: 0890-8508

Source: Molecular and Cellular Probes, Vol.15, Iss.2, 2001-04, pp. : 75-79

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Abstract