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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, Mauricio; Castro, Juan; Schuchman, Edward H; Guixé, Victoria; González, Mauricio; Zanlungo, Silvana.
Affiliation
  • Acuña M; Departamento de Gastroenterología, Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile; Center of Genome Regulation (Fondap 15090007), Universidad de Chile, Santiago, Chile. Electronic address: mariana.acuna1@gmail.com.
  • Castro-Fernández V; Departamento de Biología, Facultad de Ciencias, Universidad de Chile, Santiago, Chile. Electronic address: vcasfe@ug.uchile.cl.
  • Latorre M; Center of Genome Regulation (Fondap 15090007), Universidad de Chile, Santiago, Chile; Laboratorio de Bioinformática y Expresión Génica, INTA, Universidad de Chile, Santiago, Chile; Mathomics, Center for Mathematical Modeling, Universidad de Chile, Santiago, Chile.
  • Castro J; Departamento de Gastroenterología, Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile.
  • Schuchman EH; Department of Genetics & Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Guixé V; Departamento de Biología, Facultad de Ciencias, Universidad de Chile, Santiago, Chile.
  • González M; Center of Genome Regulation (Fondap 15090007), Universidad de Chile, Santiago, Chile; Laboratorio de Bioinformática y Expresión Génica, INTA, Universidad de Chile, Santiago, Chile.
  • Zanlungo S; Departamento de Gastroenterología, Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile; Center of Genome Regulation (Fondap 15090007), Universidad de Chile, Santiago, Chile. Electronic address: silvana@med.puc.cl.
Biochem Biophys Res Commun ; 479(3): 496-501, 2016 Oct 21.
Article in En | MEDLINE | ID: mdl-27659707
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Sphingomyelin Phosphodiesterase / Niemann-Pick Diseases Type of study: Etiology_studies Limits: Humans Language: En Journal: Biochem Biophys Res Commun Year: 2016 Document type: Article Country of publication: United States
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Sphingomyelin Phosphodiesterase / Niemann-Pick Diseases Type of study: Etiology_studies Limits: Humans Language: En Journal: Biochem Biophys Res Commun Year: 2016 Document type: Article Country of publication: United States