A case of Sandhoff disease caused by a novel β-hexosaminidase B (HEXB) mutation c.118delG (p.A40fs*24): A case report from China

Sandhoff disease (SD, Online Mendelian Inheritance in Man: 268800) is an autosomal recessive lysosomal storage disorder caused by variants of the β-hexosaminidase B (HEXB) gene (Online Mendelian Inheritance in Man: 606873). The HEXB gene has been mapped to chromosome 5q13 and contains 14 exons. The...

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Detalles Bibliográficos
Autores principales: Xie, Hongyan, Lin, Shuangzhu, Chen, Yang, Wang, Wanqi, Qi, Yangfan, Li, Jiayi, Chen, Qiandui, Feng, Xiaochun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2023
Materias:
6200
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10270510/
https://www.ncbi.nlm.nih.gov/pubmed/37327298
http://dx.doi.org/10.1097/MD.0000000000033890

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10270510/
https://www.ncbi.nlm.nih.gov/pubmed/37327298
http://dx.doi.org/10.1097/MD.0000000000033890

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