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Generation and Characterization of Novel iPSC Lines from a Portuguese Family Bearing Heterozygous and Homozygous GRN Mutations

Mutations in granulin (GRN) have been associated with neurodegenerative diseases, such as frontotemporal lobar degeneration (FTLD) and neuronal ceroid lipofuscinosis (NCL). In Portugal, GRN mutations account for around half of all FTLD cases with known genetic origin. Here, we describe the generatio...

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Detalles Bibliográficos
Autores principales: Oliveira, Ana Rafaela, Martins, Solange, Cammarata, Giuseppe, Martins, Mariana, Cardoso, Ana Maria, Almeida, Maria Rosário, do Carmo Macário, Maria, Santana, Isabel, Peça, João, Cardoso, Ana Luísa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9405606/
https://www.ncbi.nlm.nih.gov/pubmed/36009452
http://dx.doi.org/10.3390/biomedicines10081905