Molecular Genetics of Niemann–Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 <i>NPC1</i> Novel Variants

Molecular Genetics of Niemann–Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 <i>NPC1</i> Novel Variants

Niemann-Pick type C (NPC) disease is an autosomal recessive lysosomal storage disorder caused by mutations in <i>NPC1 </i>or <i>NPC2</i> genes. In 2009, the molecular characterization of 44 NPC Italian patients has been published. Here, we present an update of the genetic fin...

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Bibliographic Details
Main Authors: Andrea Dardis, Stefania Zampieri, Cinzia Gellera, Rosalba Carrozzo, Silvia Cattarossi, Paolo Peruzzo, Rosalia Dariol, Annalisa Sechi, Federica Deodato, Claudio Caccia, Daniela Verrigni, Serena Gasperini, Agata Fiumara, Simona Fecarotta, Miryam Carecchio, Massimiliano Filosto, Lucia Santoro, Barbara Borroni, Andrea Bordugo, Francesco Brancati, Cinzia V. Russo, Maja Di Rocco, Antonio Toscano, Maurizio Scarpa, Bruno Bembi
Format: Article
Language:English
Published: MDPI AG 2020-03-01
Series:Journal of Clinical Medicine
Subjects:
niemann–pick c disease
npc1
npc2
mutations
Online Access:https://www.mdpi.com/2077-0383/9/3/679

Internet

https://www.mdpi.com/2077-0383/9/3/679

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