Identification of a novel HEXB Mutation in an Iranian Family with suspected patient to GM2‐gangliosidoses
2020
Sandhoff disease is one of the GM2-gangliosidoses which is caused by a mutation in the HEXB preventing 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.
- Correction
- Source
- Cite
- Save
- Machine Reading By IdeaReader
31
References
0
Citations
NaN
KQI