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Details on Person Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability
| Class:Id | LiteratureReference:4839778 |
| _displayName | Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability |
| _timestamp | 2013-11-04 09:53:21 |
| author | [Person:4839817] Rafiq, Muhammad Arshad [Person:3702103] Kuss, Andreas W [Person:4839837] Puettmann, Lucia [Person:4839788] Noor, Abdul [Person:4839799] Ramiah, Annapoorani [Person:4839789] Ali, Ghazanfar [Person:3702100] Hu, Hao [Person:4839841] Kerio, Nadir Ali [Person:4839800] Xiang, Yong [Person:3702114] Garshasbi, Masoud [Person:4839780] Khan, Muzammil Ahmad [Person:4839794] Ishak, Gisele E [Person:4839802] Weksberg, Rosanna [Person:4420028] Ullmann, Reinhard [Person:3702130] Tzschach, Andreas [Person:2534345] Kahrizi, Kimia [Person:4839831] Mahmood, Khalid [Person:4839822] Naeem, Farooq [Person:4839801] Ayub, Muhammad [Person:4839842] Moremen, Kelley W [Person:4839783] Vincent, John B [Person:4755605] Ropers, Hans Hilger [Person:4839806] Ansar, Muhammad [Person:2534371] Najmabadi, Hossein |
| created | [InstanceEdit:4839807] Jassal, B, 2013-11-04 |
| journal | Am. J. Hum. Genet. |
| pages | 176-82 |
| pubMedIdentifier | 21763484 |
| title | Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability |
| volume | 89 |
| year | 2011 |
| (literatureReference) | [FailedReaction:4793949] Defective MAN1B1 does not hydrolyse 1,2-linked mannose (a branch) [Homo sapiens] [Pathway:4793950] Defective MAN1B1 causes MRT15 [Homo sapiens] [FailedReaction:9036008] Defective MAN1B1 does not hydrolyse a second 1,2-linked mannose (a branch) [Homo sapiens] [FailedReaction:9036011] Defective MAN1B1 does not hydrolyse 1,2-linked mannose (b branch) [Homo sapiens] [FailedReaction:9036012] Defective MAN1B1 does not hydrolyse 1,2-linked mannose (c branch) [Homo sapiens] |
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