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

Morava, Eva ; Baumgartner, Matthias ; Patterson, Marc ; Rahman, Shamima ; Zschocke, Johannes ; Peters, Verena

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

Germany: Springer Berlin / Heidelberg

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