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

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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Main Authors: Rutaba Gul, Sabika Firasat, Mikkel Schubert, Asmat Ullah, Elionora Peña, Anne C. B. Thuesen, Mulazim Hussain, Frederik F. Staeger, Anette P. Gjesing, Anders Albrechtsen, Torben Hansen
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-04-01
Series:Frontiers in Genetics
Subjects:
lysosomal storage disorder
mucopolysaccharidosis
Pakistani families
whole genome sequencing
ABCA5
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2023.1128850/full

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