Browsing Scopus İndeksli Yayınlar Koleksiyonu by Subject "C.870G>A"

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A novel pathological arsb mutation (c.870G>A; p.Trp290stop) in mucopolysaccharidosis type VI patients

Hancer, Veysel Sabri; Buyukdogan, Murat; Babameto-Laku, Anila (Karger, 2019)

Mucopolysaccharidosis (MPS) type VI, also known as Maroteaux-Lamy syndrome, is a lysosomal storage disorder, characterized by the deficiency of the arylsulfatase B enzyme. The clinical phenotype and severity of the illness ...