Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Variants

Lysosomal storage diseases (LSDs) are a heterogeneous group of genetic disorders with variable degrees of severity and a broad phenotypic spectrum, which may overlap with a number of other conditions. While individually rare, as a group LSDs affect a significant number of patients, placing an import...

Descripción completa

Detalles Bibliográficos
Autores principales: Encarnação, Marisa, Coutinho, Maria Francisca, Silva, Lisbeth, Ribeiro, Diogo, Ouesleti, Souad, Campos, Teresa, Santos, Helena, Martins, Esmeralda, Cardoso, Maria Teresa, Vilarinho, Laura, Alves, Sandra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7503609/
https://www.ncbi.nlm.nih.gov/pubmed/32883051
http://dx.doi.org/10.3390/ijms21176355

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7503609/
https://www.ncbi.nlm.nih.gov/pubmed/32883051
http://dx.doi.org/10.3390/ijms21176355

Ejemplares similares