Article
Molecular analysis of mucopolysaccharidosis type VI in Poland, Belarus, Lithuania and Estonia.
Molecular genetics and metabolism - 1 Feb 2012
Jurecka Agnieszka, Piotrowska Ewa, Cimbalistiene Loreta, Gusina Nina, Sobczyńska Agnieszka, Czartoryska Barbara, Czerska Kamila, Õunap Katrin, Węgrzyn Grzegorz, Tylki-Szymańska Anna
Abstract excerpt
Mucopolysaccharidosis VI (MPS VI) is a rare autosomal recessive disorder caused by a deficiency of N-acetylgalactosamine-4-sulfatase (ARSB). Over 130 ARSB gene mutations have been identified thus far and most mutations are unique to individual families. We aimed to analyze the spectrum of mutations in the ARSB gene responsible for the disorder in Poland, Belarus and Baltic States. Twenty one families with MPS VI...
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