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

Abstract 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-populati...

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Principais autores:	Harsh Sheth, Premal Naik, Maulin Shah, Riddhi Bhavsar, Aadhira Nair, Frenny Sheth, Jayesh Sheth
格式:	Artigo
语言:	Inglês
出版:	BMC 2022-06-01
丛编:	BMC Genomics
主题:	Mucopolysaccharidosis IVA (MPS IVA) Morquio A syndrome GALNS Founder variant p.P77R
在线阅读:	https://doi.org/10.1186/s12864-022-08693-4
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