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Novel NPC1 mutations with different segregation in two related Greek patients with Niemann-Pick type C disease: molecular study in the extended pedigree and clinical correlations

Crossref DOI link: https://doi.org/10.1186/s12881-017-0409-4

Published Online: 2017-05-04

Published Print: 2017-12

Update policy: https://doi.org/10.1007/springer_crossmark_policy

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