Journal of Genetic Disorders & Genetic ReportsISSN: 2327-5790

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Deepika Joshi Author

Subjects of specialization
GBA1; L444P; , VPS35,Parkinson disease,Goucher?s disease,ADPKD

Affiliation
Department of Neurology, Institute of Medical Sciences, Banaras Hindu University, Varanasi -221005, Uttar Pradesh, India

Biography

Im deepika Department of Neurology, Institute of Medical Sciences, Banaras Hindu University, Varanasi -221005, Uttar Pradesh, India,Department of Neurology, Institute of Medical Sciences, Banaras Hindu University, Varanasi -221005, Uttar Pradesh, India,Department of Neurology, Institute of Medical Sciences, Banaras Hindu University, Varanasi -221005, Uttar Pradesh, India

Publications

Research Article Subscription

Screening of Genetic Mutations in GBA1, GIGYF2 and VPS35 in Parkinson Disease Patients from India

Author(s):

Tamali Halder, Janak Raj, Sharad Pandey, Ajay Kumar, Sagar Kawale, Sandeep Chaudhary, Vivek Sharma, Deepika Joshi and Parimal Das

Background: Mutations in Glucocerebrosidase gene (GBA1) has long been identified as a genetic risk factor for Parkinson disease (PD) in various ethnic populations such as Chinese, Taiwanese, Canadian, Caucasian, Hungarian, Ashkenazi Jewish etc. However, so far no report exists on the role of GBA1 in the PD patients in Indian population. The present study has been designed to assess the frequency of two common mutations in GBA1 (p.L444P and p.N370S) along with two other recently reported mutations: (i) p.R610G in Growth factor Receptor Binding protein 10 interacting GYF protein 2 (GIGYF2) and (ii) p.D620N in Vacuolar prote... view more»

DOI: 10.4172/2327-5790.1000144

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