Identification of seven novel SMPD1 mutations causing Niemann-Pick disease types A and B

  1. Irun, P.
  2. Mallén, M.
  3. Dominguez, C.
  4. Rodriguez-Sureda, V.
  5. Alvarez-Sala, L.
  6. Arslan, N.
  7. Bermejo, N.
  8. Guerrero, C.
  9. Perez de Soto, I.
  10. Villalón, L.
  11. Giraldo, P.
  12. Pocovi, M.
Journal:
Clinical Genetics

ISSN: 0009-9163 1399-0004

Year of publication: 2013

Volume: 84

Issue: 4

Pages: 356-361

Type: Article

DOI: 10.1111/CGE.12076 GOOGLE SCHOLAR