Novel splice-affecting variants in CYP27A1 gene in two Chilean patients with cerebrotendinous xanthomatosis

  1. Smalley, S.V.
  2. Preiss, Y.
  3. Suazo, J.
  4. Andrés Vega, J.
  5. Angellotti, I.
  6. Lagos, C.F.
  7. Rivera, E.
  8. Kleinsteuber, K.
  9. Campion, J.
  10. Martínez, J.A.M.
  11. Maiz, A.
  12. Santos, J.L.
Revue:
Genetics and Molecular Biology

ISSN: 1678-4685 1415-4757

Année de publication: 2015

Volumen: 38

Número: 1

Pages: 30-36

Type: Article

DOI: 10.1590/S1415-475738120140087 GOOGLE SCHOLAR lock_openAccès ouvert editor