The GALNS p.P77R variant is a probable Gujarati-Indian founder mutation causing Mucopolysaccharidosis IVA syndrome

BACKGROUND: Mucopolysaccharidosis IVA (Morquio syndrome A, MPS IVA) is an autosomal recessive lysosomal storage disorder caused due to biallelic variants in the N-acetylgalactoseamine-6-sulfate sulfatase (GALNS) gene. The mutation spectrum in this condition is determined amongst sub-populations belo...

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Detalles Bibliográficos
Autores principales: Sheth, Harsh, Naik, Premal, Shah, Maulin, Bhavsar, Riddhi, Nair, Aadhira, Sheth, Frenny, Sheth, Jayesh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9210747/
https://www.ncbi.nlm.nih.gov/pubmed/35729508
http://dx.doi.org/10.1186/s12864-022-08693-4

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