(2020) Identification of a novel HEXB Mutation in an Iranian Family with suspected patient to GM2-gangliosidoses. Clinical Case Reports. pp. 2583-2591. ISSN 2050-0904
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Abstract
Sandhoff disease is one of the GM2-gangliosidoses which is caused by a mutation in theHEXBpreventing the breakdown of GM2-ganglioside. We report a novel HEXB variant in a family with a history of a dead girl with Sandhoff disease which was not found in controls.
| Item Type: | Article |
|---|---|
| Keywords: | GM2-gangliosidoses HEXA HEXB sandhoff beta-hexosaminidase SANDHOFF-DISEASE HEXOSAMINIDASE-B GENE MUTATION INFANTILE PROTEIN ASSIGNMENT KINASE IMPACT SERVER |
| Subjects: | QU Biochemistry. Cell Biology and Genetics > QU 300-560 Cell Biology and Genetics |
| Divisions: | Faculty of Medicine > Department of Basic Science > Department of Molecular Medicine and Genetics Research Institute for Primordial Prevention of Non-communicable Disease > Child Growth and Development Research Center |
| Page Range: | pp. 2583-2591 |
| Journal or Publication Title: | Clinical Case Reports |
| Journal Index: | ISI |
| Volume: | 8 |
| Number: | 12 |
| Identification Number: | https://doi.org/10.1002/ccr3.3103 |
| ISSN: | 2050-0904 |
| Depositing User: | Zahra Otroj |
| URI: | http://eprints.mui.ac.ir/id/eprint/13079 |
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