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.
Revista:
Genetics and Molecular Biology

ISSN: 1678-4685,  1415-4757

Ano de publicación: 2015

Volume: 38

Número: 1

Páxinas: 30-36

Tipo: Artigo

DOI: 10.1590/S1415-475738120140087 GOOGLE SCHOLAR lock_openAcceso aberto editor