loading...| Preferred Name | Defective GNS does not hydrolyse 6-sulfate from GlcNAc6S | |
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| Definitions |
Reviewed: Coutinho, Maria, 2012-08-27 Edited: Jassal, B, 2012-05-21 Reviewed: Matos, Liliana, 2012-08-27 Authored: Jassal, B, 2012-05-21 Due to the rarity of this disease, only approximately 20 mutations had been described. Recently a study by Valstar et al. revealed 15 of those mutations (Valstar et al. 2010). The group also conducted a literature survey of MPS IIID (MIM:252940). Mutations include R355X (Mok et al. 2003), Q390X (Jansen et al. 2007), Q272X (Beesley et al. 2007) and S94I (Valstar et al. 2010). Other mutations are not detailed here but can be referenced in the Valstar et al. review (Valstar et al. 2010). Reviewed: Alves, Sandra, 2012-08-27 |
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| ID |
http://purl.obolibrary.org/obo/HINO_0008273 |
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| comment |
Reviewed: Coutinho, Maria, 2012-08-27 Edited: Jassal, B, 2012-05-21 Reviewed: Matos, Liliana, 2012-08-27 Authored: Jassal, B, 2012-05-21 Due to the rarity of this disease, only approximately 20 mutations had been described. Recently a study by Valstar et al. revealed 15 of those mutations (Valstar et al. 2010). The group also conducted a literature survey of MPS IIID (MIM:252940). Mutations include R355X (Mok et al. 2003), Q390X (Jansen et al. 2007), Q272X (Beesley et al. 2007) and S94I (Valstar et al. 2010). Other mutations are not detailed here but can be referenced in the Valstar et al. review (Valstar et al. 2010). Reviewed: Alves, Sandra, 2012-08-27 |
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| definition source |
Reactome, http://www.reactome.org Pubmed16990043 Pubmed20232353 Pubmed12573255 Pubmed17998446 |
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| label |
Defective GNS does not hydrolyse 6-sulfate from GlcNAc6S |
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| name |
Defective GNS does not hydrolyse 6-sulfate from N-acetylglucosamine 6-sulfate of KS |
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| prefixIRI |
HINO:0008273 |
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| prefLabel |
Defective GNS does not hydrolyse 6-sulfate from GlcNAc6S |
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| seeAlso |
Reactome Database ID Release 432263495 ReactomeREACT_147865 |
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