Identifying the genetic causes of phenotypically diagnosed Pakistani mucopolysaccharidoses patients by whole genome sequencing

Background: Lysosomal storage disorders (LSDs) are a group of inherited metabolic diseases, which encompass more than 50 different subtypes of pathologies. These disorders are caused by defects in lysosomal enzymes, transporters, and other non-lysosomal proteins. Mucopolysaccharidosis (MPS) is the m...

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Detalles Bibliográficos
Autores principales: Gul, Rutaba, Firasat, Sabika, Schubert, Mikkel, Ullah, Asmat, Peña, Elionora, Thuesen, Anne C. B., Hussain, Mulazim, Staeger, Frederik F., Gjesing, Anette P., Albrechtsen, Anders, Hansen, Torben
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10113632/
https://www.ncbi.nlm.nih.gov/pubmed/37091798
http://dx.doi.org/10.3389/fgene.2023.1128850

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