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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.
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| Pubblicato in: | Clin Case Rep |
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| Autori principali: | , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
John Wiley and Sons Inc.
2020
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7752470/ https://ncbi.nlm.nih.gov/pubmed/33363784 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.3103 |
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