Functional splicing assay supporting that c.70+5G>A mutation in the MPV17 gene is disease causing

  1. Navarro-Sastre, A.
  2. García-Silva, M.T.
  3. Martín-Hernández, E.
  4. Lluch, M.
  5. Briones, P.
  6. Ribes, A.
Revista:
Journal of Inherited Metabolic Disease

ISSN: 1573-2665 0141-8955

Any de publicació: 2010

Volum: 33

Número: SUPPL. 3

Tipus: Article

DOI: 10.1007/S10545-010-9155-X GOOGLE SCHOLAR