Article

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

2022-03-25

Abstract excerpt

<h4>Background: </h4> Mucopolysaccharidosis IVA (Morquio syndrome A, MPS IVA) is an autosomal recessive lysosomal storage disorder caused due to biallelic variants in the N-acetylgalactoseamine-6-sulfatase ( GALNS ) gene. The mutation spectrum in this condition is determined amongst sub-populations belonging to the north, south and east India geography, however, sub-populations of west Indian origin, especially Gu...

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Literature Corpus work: b1d1800d-fc6d-59d1-aec6-fc673fe41910
DOI: 10.21203/rs.3.rs-1449904/v1

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