Associated Papers
Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease.
Seker Yilmaz B et al.
International Journal of Molecular Sciences, 2020
Molecular Genetics of Niemann-Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants.
Dardis A et al.
Journal of Clinical Medicine, 2020
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
The Spectrum of Niemann-Pick Type C Disease in Greece.
Mavridou I et al.
Jimd Reports, 2017
Characterisation of two deletions involving NPC1 and flanking genes in Niemann-Pick type C disease patients.
Rodríguez-Pascau L et al.
Molecular Genetics and Metabolism, 2012
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