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Identification of a novel HEXB Mutation in an Iranian Family with suspected patient to GM2‐gangliosidoses
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.
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7752470/ https://www.ncbi.nlm.nih.gov/pubmed/33363784 http://dx.doi.org/10.1002/ccr3.3103 |