Article
Molecular analysis of NPC1 and NPC2 gene in 34 Niemann-Pick C Italian patients: identification and structural modeling of novel mutations.
Neurogenetics - 1 Jul 2009
Fancello Tatiana, Dardis Andrea, Rosano Camillo, Tarugi Patrizia, Tappino Barbara, Zampieri Stefania, Pinotti Elisa, Corsolini Fabio, Fecarotta Simona, D'Amico Adele, Di Rocco Maja, Uziel Graziella, Calandra Sebastiano, Bembi Bruno, Filocamo Mirella
Abstract excerpt
Niemann-Pick C, the autosomal recessive neuro-visceral disease resulting from a failure of cholesterol trafficking within the endosomal-lysosomal pathway, is due to mutations in NPC1 or NPC2 genes. We characterized 34 unrelated patients including 32 patients with mutations in NPC1 gene and two patients in NPC2 gene. Overall, 33 distinct genotypes were encountered. Among the 21 unpublished NPC1 alleles, 15 were...
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