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

Niemann-Pick type C (NPC) disease is an autosomal recessive lysosomal storage disorder caused by mutations in NPC1 or NPC2 genes. In 2009, the molecular characterization of 44 NPC Italian patients has been published. Here, we present an update of the genetic findings in 105 Italian NPC patients belo...

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Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Τόπος έκδοσης:J Clin Med
Κύριοι συγγραφείς: Dardis, Andrea, Zampieri, Stefania, Gellera, Cinzia, Carrozzo, Rosalba, Cattarossi, Silvia, Peruzzo, Paolo, Dariol, Rosalia, Sechi, Annalisa, Deodato, Federica, Caccia, Claudio, Verrigni, Daniela, Gasperini, Serena, Fiumara, Agata, Fecarotta, Simona, Carecchio, Miryam, Filosto, Massimiliano, Santoro, Lucia, Borroni, Barbara, Bordugo, Andrea, Brancati, Francesco, Russo, Cinzia V., Di Rocco, Maja, Toscano, Antonio, Scarpa, Maurizio, Bembi, Bruno
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: MDPI 2020
Θέματα:
Article
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7141276/
https://ncbi.nlm.nih.gov/pubmed/32138288
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/jcm9030679
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