Identification and characterization of SMPD1 mutations causing Niemann‐Pick types A and B in Spanish patients期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

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Identification and characterization of SMPD1 mutations causing Niemann‐Pick types A and B in Spanish patients

Authors:	Laura Rodríguez‐Pascau Laura Gort Edward H Schuchman Lluïsa Vilageliu Daniel Grinberg Amparo Chabs

Institution:	1. Departament de Genètica, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain;2. CIBER de Enfermedades Raras (CIBERER), Barcelona, Spain;3. Institut de Biomedicina de la Universitat de Barcelona (IBUB), Barcelona, Spain;4. The first two authors contributed equally to this work.;5. Institut de Bioquímica Clínica, Hospital Clínic, Corporació Sanitària Clínic, Barcelona, Spain;6. Department of Genetics & Genomic Sciences, Mount Sinai School of Medicine, New York, New York, USA

Abstract:

Keywords:	Niemann‐Pick A/B Acid sphingomyelinase deficiency SMPD1 heterologous expression