A novel mutation in SGSH causing Sanfillipo type 3A Mucopolysaccharidoses in an Indian family

A novel mutation in SGSH causing Sanfillipo type 3A Mucopolysaccharidoses in an Indian family

Mucopolysaccharidoses (MPS) type III also termed as Sanfillipo syndrome, involves defect in enzymes required for degradation of heparan sulphate. We report a clinical case of MPS-III later followed by genetic investigation for MPS-III genes SGSH, NAGLU, HGSNAT and GNS. It allowed us to identify a no...

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Bibliographic Details
Main Authors: Jyotsna Singh, P.K. Muhammad, Sweta Jain, Aradhna Mathur, Shaista Parveen, Aditi Joshi, Bharathram Uppili, C.V. Shaji, K.A. Kabeer, Suraj Menon, Mohammed Faruq
Format: Article
Language:English
Published: Elsevier 2018-06-01
Series:Molecular Genetics and Metabolism Reports
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426918300193

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http://www.sciencedirect.com/science/article/pii/S2214426918300193

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