Sandhoff disease is caused by abnormalities in HEXB gene encoding the b-subunit of b-hexosaminidase. In this study, we analyzed the HEXB gene of a Sandhoff carrier in the Greek-Cypriot community. A G to C transversion was identified in one allele of her HEXB gene at position 5 of the 5¢-splice site
A novel HEXB mutation and its structural effects in juvenile Sandhoff disease
✍ Scribed by S.Z. Wang; M.B. Cachón-González; P.E. Stein; R.H. Lachmann; P.C. Corry; J.E. Wraith; T.M. Cox
- Book ID
- 116988410
- Publisher
- Elsevier Science
- Year
- 2008
- Tongue
- English
- Weight
- 237 KB
- Volume
- 95
- Category
- Article
- ISSN
- 1096-7192
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