Associated Papers
Identifying the genetic causes of phenotypically diagnosed Pakistani mucopolysaccharidoses patients by whole genome sequencing.
Gul R et al.
Frontiers in Genetics, 2023
Identification of genetic variants associated with a wide spectrum of phenotypes clinically diagnosed as Sanfilippo and Morquio syndromes using whole genome sequencing.
Gul R et al.
Frontiers in Genetics, 2023
Exome Sequencing Identifies a Biallelic GALNS Variant (p.Asp233Asn) Causing Mucopolysaccharidosis Type IVA in a Pakistani Consanguineous Family.
Ghafoor S et al.
Genes, 2022
The GALNS p.P77R variant is a probable Gujarati-Indian founder mutation causing Mucopolysaccharidosis IVA syndrome.
Sheth H et al.
Bmc Genomics, 2022
Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants.
Zanetti A et al.
Human Mutation, 2021
34387910 (PubMed )
Supplement: HUMU-42-1384-s001.xlsx › TabS4_GenotypesLiterature
GALNS mutations in Indian patients with mucopolysaccharidosis IVA.
Bidchol AM et al.
American Journal of Medical Genetics. Part A, 2014
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