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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| Datum: | 2016 |
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| Hauptverfasser: | , , |
| Format: | Artikel |
| Sprache: | English |
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Інститут молекулярної біології і генетики НАН України
2016
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| Schriftenreihe: | Вiopolymers and Cell |
| Schlagworte: | |
| Online Zugang: | http://dspace.nbuv.gov.ua/handle/123456789/152847 |
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| Назва журналу: | Digital Library of Periodicals of National Academy of Sciences of Ukraine |
| Zitieren: | Molecular-genetic characterization of Ukrainian patients with mucopolysaccharidosis IIIA: identification of three new mutations in the heparan-N-sulfatase gene / N.S. Trofimova, N.V. Olkhovich, N.G. Gorovenko // Вiopolymers and Cell. — 2016. — Т. 32, № 5. — С. 359-366. — Бібліогр.: 24 назв. — англ. |