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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Detalles Bibliográficos
Autores principales: Singh, Jyotsna, Muhammad, P.K., Jain, Sweta, Mathur, Aradhna, Parveen, Shaista, Joshi, Aditi, Uppili, Bharathram, Shaji, C.V., Kabeer, K.A., Menon, Suraj, Faruq, Mohammed
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2018
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6047218/
https://www.ncbi.nlm.nih.gov/pubmed/30023302
http://dx.doi.org/10.1016/j.ymgmr.2018.04.003

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