Identification of seven novelSMPD1mutations causing Niemann-Pick disease types A and B

P Irun, M Mallén, C Dominguez, V Rodriguez-Sureda, LA Alvarez-Sala, N Arslan, N Bermejo, C Guerrero, I Perez de Soto, L Villalón, P Giraldo, M Pocovi
  • Clinical Genetics, January 2013, Wiley
  • DOI: 10.1111/cge.12076

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The following have contributed to this page: Dr Nuria Bermejo