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Molecular-genetic characterization of Ukrainian patients with mucopolysaccharidosis IIIA: identification of three new mutations in the heparan-N-sulfatase gene
Mucopolysaccharidosis type III or Sanfilippo syndrome (MIM # 252900) is a rare hereditary autosomal-recessive metabolic disorder, which occurs due to the deficiency of heparan-N-sulfatase enzyme (EC 3.10.1.1). Aim. To identify the whole spectrum of mutations in SGSH gene in Ukrainian patients with M...
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| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Інститут молекулярної біології і генетики НАН України
2016
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| Series: | Вiopolymers and Cell |
| Subjects: | |
| Online Access: | http://dspace.nbuv.gov.ua/handle/123456789/152847 |
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