Aberrantly spliced mRNAs of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene with a donor splice-site point mutation produce hereditary HL deficiency

Buesa, C ; Pié, J ; Barceló, A ; Casals, N ; Mascaró, C ; Casale, C H ; Haro, D ; Duran, M ; Smeitink, J A ; Hegardt, F G

Journal of lipid research, 1996-11, Vol.37 (11), p.2420-2432 [Periódico revisado por pares]

United States: Elsevier

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