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...
Gespeichert in:
| Veröffentlicht in: | Вiopolymers and Cell |
|---|---|
| Datum: | 2016 |
| Hauptverfasser: | , , |
| Format: | Artikel |
| Sprache: | English |
| Veröffentlicht: |
Інститут молекулярної біології і генетики НАН України
2016
|
| Schlagworte: | |
| Online Zugang: | https://nasplib.isofts.kiev.ua/handle/123456789/152847 |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| 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. |