The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: Data from individual patients and family studies

  1. Ferreira, S.
  2. Ortiz, A.
  3. Germain, D.P.
  4. Viana-Baptista, M.
  5. Caldeira-Gomes, A.
  6. Camprecios, M.
  7. Fenollar-Cortés, M.
  8. Gallegos-Villalobos, T.
  9. Garcia, D.
  10. García-Robles, J.A.
  11. Egido, J.
  12. Gutiérrez-Rivas, E.
  13. Herrero, J.A.
  14. Mas, S.
  15. Oancea, R.
  16. Péres, P.
  17. Salazar-Martín, L.M.
  18. Solera-Garcia, J.
  19. Alves, H.
  20. Garman, S.C.
  21. Oliveira, J.P.
Journal:
Molecular Genetics and Metabolism

ISSN: 1096-7206 1096-7192

Year of publication: 2015

Volume: 114

Issue: 2

Pages: 248-258

Type: Article

DOI: 10.1016/J.YMGME.2014.11.004 GOOGLE SCHOLAR

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