Identification of novel and known mutation in 19 patients with mucolipidosis type II and III from India and validation of novel method of screening for mucolipidosis-II and III screening
Mistri, Mehul A.; Dalal, Ashwin; Nath, Payal; Nampoothiri, Sheela; Mehta, Sanjeev; Singh, Ankur; Sheth, Frenny; Sheth, Jayesh
- 期刊名称Molecular Genetics and Metabolism
- 作者Mistri, Mehul A.; Dalal, Ashwin; Nath, Payal; Nampoothiri, Sheela; Mehta, Sanjeev; Singh, Ankur; Sheth, Frenny; Sheth, Jayesh
- 卷第123卷
- 期第2期
- 印刷ISSN1096-7192
- 文件大小57.12KB
- 发表时间2018-02
- DOI10.1016/j.ymgme.2017.12.252