Browsing by Subject "p.Ala359Asp"

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    • Structural and functional analysis of the ASM p.Ala359Asp mutant that causes acid sphingomyelinase deficiency 
      Acuña, Mariana; Castro Fernández, Víctor; Latorre Mora, Mauricio; Castro, Juan; Schuchman, Edward H.; Guixé Leguía, Victoria Cristina; González Canales, Mauricio; Zanlungo, Silvana (Elsevier, 2016)
      Niemann-Pick disease (NPD) type A and B are recessive hereditary disorders caused by deficiency in acid sphingomyelinase (ASM). The p.A1a359Asp mutation has been described in several patients but its functional and structural ...