Tay Sachs disease variant B1: iPSC and NGS as the basis for a cellular model

Tay Sachs disease variant B1 (TSD B1; OMIM 272800) is a neurodegenerative lysosomal storage disease (LSD) which, although rare, is the most frequent form of TSD in Portugal. The mutation p.R178H (c.533G>A; rs28941770), associated with TSD B1, leads to a mutant HexA protein with altered kinetics a...

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Detalhes bibliográficos
Autor principal: Ribeiro, Diogo (author)
Outros Autores: Duarte, Ana J. (author), Moreira, Luciana (author), Santos, Renato (author), Encarnaçao, Marisa (author), Silva, Lisbeth (author), Coutinho, M. Francisca (author), Alves, Sandra (author), Amaral, Olga (author)
Formato: conferenceObject
Idioma:eng
Publicado em: 2022
Assuntos:
Tay Sachs B1 variant
Lysossomal Disorder
Cell Models
Human Genetics
iPSC
NGS
Doenças Genéticas
Texto completo:http://hdl.handle.net/10400.18/8295
País:Portugal
Oai:oai:repositorio.insa.pt:10400.18/8295

Texto Completo

http://hdl.handle.net/10400.18/8295

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