Associated Papers
Challenges in the Definitive Diagnosis of Niemann-Pick Type C-Leaky Variants and Alternative Transcripts.
Encarnação M et al.
Genes, 2023
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.
Bountouvi E et al.
Bmc Medical Genetics, 2017
Molecular analysis of 30 Niemann-Pick type C patients from Spain.
Macías-Vidal J et al.
Clinical Genetics, 2011
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