Genomics and transcriptomics approach - diagnosis of a challenging case of Niemann-Pick type C (NP-C)

NP-C is a neurodegenerative Inherited Metabolic Disease with a heterogeneous clinical presentation, and due to mutations in either the NPC1 or NPC2 genes.We have studied a patient with clinical diagnosis of NP-C but presenting inconclusive results regarding molecular analysis.To better characterize...

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Bibliographic Details
Main Author: Encarnação, Marisa (author)
Other Authors: Coutinho, Maria Francisca (author), Cho, Soo-Min (author), Cardoso, Maria Teresa (author), Chaves, Paulo (author), Gaspar, Paulo (author), Santos, Juliana Inês (author), Ribeiro, Isaura (author), Quelhas, Dulce (author), Lacerda, Lúcia (author), Leão-Teles, Elisa (author), Futerman, Anthony H. (author), Vilarinho, Laura (author), Alves, Sandra (author)
Format: conferenceObject
Language:eng
Published: 2020
Subjects:
Lysosomal Storage Diseases
Niemann-Pick type C
Genomics and Transcriptomics
Doenças Genéticas
Online Access:http://hdl.handle.net/10400.18/7047
Country:Portugal
Oai:oai:repositorio.insa.pt:10400.18/7047

Internet

http://hdl.handle.net/10400.18/7047

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