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Paper Details

Identifying the genetic causes of phenotypically diagnosed Pakistani mucopolysaccharidoses patients by whole genome sequencing.
1
2023
LSDs, Lysosomal storage disorders, MPS, Mucopolysaccharidosis, associated genes, inherited metabolic diseases, lysosomal enzymes, lysosomal storage disorder, lysosomal storage disorders, mucopolysaccharidoses, mucopolysaccharidosis I, mucopolysaccharidosis II, mucopolysaccharidosis type, mucopolysaccharidosis type I, novel genes, patients
Author NameAffiliation
Anette P GjesingNovo Nordisk Foundation Center for Basic Metabolic Research, University of Copenhagen
Torben HansenNovo Nordisk Foundation Center for Basic Metabolic Research, University of Copenhagen
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Release 1.2