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Inicio Medicina Clínica (English Edition) New mutation in a young woman diagnosed with Niemann–Pick disease type C
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Clinical report
New mutation in a young woman diagnosed with Niemann–Pick disease type C
Nueva mutación descrita en una mujer joven con esplenomegalia, diagnosticada de enfermedad de Niemann-Pick tipo C
Ana Larioa,
Corresponding author
ana.lario@gmail.com

Corresponding author.
, Carlos de Miguela, Emilio Ojedaa, Santiago Gila, María J. Collb, Pilar Alfonsoc
a Servicio de Hematología y Hemoterapia, Hospital Universitario Puerta de Hierro, Majadahonda, Madrid, Spain
b Centro de Diagnóstico Biomédico, Hospital Clínic, Barcelona, Spain
c Departamento de Bioquímica y Biología Celular y Molecular, Universidad de Zaragoza, Zaragoza, Spain
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ISSN: 23870206
Original language: English
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