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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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Bibliografiska uppgifter
I publikationen:Clin Case Rep
Huvudupphovsmän: Mansouri‐Movahed, Fatemeh, Akhoundi, Fatemeh, Nikpour, Parvaneh, Garshasbi, Masoud, Emadi‐Baygi, Modjtaba
Materialtyp: Artigo
Språk:Inglês
Publicerad: John Wiley and Sons Inc. 2020
Ämnen:
Länkar: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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