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.

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DOI: 10.1590/S1415-475738120140087 GOOGLE SCHOLAR lock_openOpen access editor