Molecular-genetic characterization of Ukrainian patients with mucopolysaccharidosis I: identification of three new mutations in α-L-iduronidase gene
Mucopolysaccharidosis I (MPS I) is a rare hereditary autosomal-recessive metabolic disorder, which occurs due to the deficiency of the lysosomal enzyme α-L-iduronidase (IDUA; EC 3.2.1.76). There are three clinical forms of MPS I: Hurler syndrome, MPS I H; MIM # 607014, ORPHA 93473, Hurler/Scheie syn...
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| Datum: | 2016 |
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| Hauptverfasser: | , |
| Format: | Artikel |
| Sprache: | English |
| Veröffentlicht: |
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/123456789/152850 |
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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 I: identification of three new mutations in α-L-iduronidase gene / N.S. Trofimova, N.V. Olkhovich // Вiopolymers and Cell. — 2016. — Т. 32, № 6. — С. 442-449. — Бібліогр.: 15 назв. — англ. |