Clinical and molecular characteristics of a child with juvenile Sandhoff disease
OBJECTIVE: To explore the clinical features and molecular mutation of HEXB gene in a case with juvenile Sandhoff disease
| Publié dans: | Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 52(2014), 4 vom: 30. Apr., Seite 313-6 |
|---|---|
| Auteur principal: | |
| Autres auteurs: | , , , , |
| Format: | Article |
| Langue: | Chinese |
| Publié: |
2014
|
| Accès à la collection: | Zhonghua er ke za zhi = Chinese journal of pediatrics |
| Sujets: | Case Reports Journal Article Research Support, Non-U.S. Gov't HEXB protein, human EC 3.2.1.52 Hexosaminidase A Hexosaminidase B beta-Hexosaminidase beta Chain |