Identification of a novel HEXB Mutation in an Iranian Family with suspected patient to GM2‐gangliosidoses
Abstract 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.
Na minha lista:
| Principais autores: | , , , , |
|---|---|
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Wiley
2020-12-01
|
| coleção: | Clinical Case Reports |
| Assuntos: | |
| Acesso em linha: | https://doi.org/10.1002/ccr3.3103 |
| Tags: |
Sem tags, seja o primeiro a adicionar uma tag!
|