Associated Papers
Pulmonary manifestations in Niemann-Pick type C disease with mutations in NPC2 gene: case report and review of literature.
Sheth J et al.
Bmc Medical Genetics, 2017
Niemann-Pick C disease: functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2.
Verot L et al.
Clinical Genetics, 2007
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