Juvenile Tay Sachs Disease Due to Compound Heterozygous Mutation in Hex-A Gene, with Early Sign of Bilateral Tremors.
作者信息
Sheth Jayesh, Mohapatra Ira, Patra Gangotri, Bhavsar Riddhi, Patel Chandni, Shah Siddharth, Nair Aadhira
机构信息
Department of Biochemical and Molecular Genetics, FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, India.
Consultant Pediatric Neurologist, Royal Institute of Child Neurosciences, Vastrapur, Ahmedabad, Gujarat, India.
出版信息
Ann Indian Acad Neurol. 2022 May-Jun;25(3):502-505. doi: 10.4103/aian.aian_577_21. Epub 2022 Jan 5.
Abstract
摘要
Zotero 插件