Lysosomal Acid Lipase Deficiency in 23 Spanish Patients: High Frequency of the Novel c.966+2T>G Mutation in Wolman Disease

Ruiz-Andrés, Carla ; Sellés, Elena ; Arias, Angela ; Gort, Laura Patterson, Marc ; Zschocke, Johannes ; Morava, Eva ; Rahman, Shamima ; Peters, Verena ; Baumgartner, Matthias

JIMD Reports, Volume 37, 2017, Vol.37, p.7-12 [Periódico revisado por pares]

Germany: Springer Berlin / Heidelberg

Texto completo disponível