Article

Identification of Missense Mutation Pro77Arg As A Founder Mutation in Morquio-A Syndrome in Indian Gujarati Patel Ethnicity

2020-09-21

Abstract excerpt

<title>Abstract</title> <p><bold>Background:</bold> Morquio A syndrome (MPS IVA) is a mucopolysaccharide group storage disorder caused due to the deficient activity of the lysosomal enzyme N-acetylgalactoseamine-6-sulfatase encoded by <italic>GALNS</italic>. The present study represents the mutation spectrum of <italic>GALNS </italic>in 25 Gujarati Patel patients of India clinically and biochemically confirmed wi...

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Literature Corpus work: f634b36d-dfba-5042-92c0-7c165aa5246f
DOI: 10.21203/rs.3.rs-65487/v1

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