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Exome Sequencing Identifies a Biallelic GALNS Variant (p.Asp233Asn) Causing Mucopolysaccharidosis Type IVA in a Pakistani Consanguineous Family

Mucopolysaccharidoses (MPS) type IVA is a lysosomal storage disease that mainly affects the skeletal system and is caused by a deficiency of the enzyme N-acetylgalactosamine-6-sulfatase (GALNS). The condition can mistakenly be diagnosed as a primary skeletal dysplasia such as spondylo-epiphyseal dys...

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Detalles Bibliográficos
Autores principales:	Ghafoor, Saima, Silveira, Karina da Costa, Qamar, Raheel, Azam, Maleeha, Kannu, Peter
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9602411/ https://www.ncbi.nlm.nih.gov/pubmed/36292628 http://dx.doi.org/10.3390/genes13101743

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