Journal of Genetic Disorders & Genetic ReportsISSN: 2327-5790

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Jaswinder Kalra Author

JaswinderKalra@gmail.com

Subjects of specialization
Gaucher Disease

Affiliation
MD, Department of Obstetrics and Gynecology (Obstetrics and Gynecology), Fetal Medicine Clinical), Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India

Biography

 Jaswinder Kalra belongs to Department of Obstetrics and Gynecology intrested in the field  Lysosomal Storage Disorders (LSD); Gaucher Disease (GD); Acid β-glucosidase glucocerebrosidase enzyme from Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India

Publications

Research Article Subscription

Mutational Analysis in Gaucher Disease: Implications in Genetic Counseling and Management.

Author(s):

Inusha Panigrahi, Jaswinder Kalra, Prasoon Goyad, Preeti Khetarpal and Anjana Munshi

Gaucher disease (GD) is the most common LSD worldwide. The disease is caused due to mutations in β-glucocerobrosidase (GBA) gene located on chromosome 1. The mutations results in the deficient activity of acid β-glucosidase (glucocerebrosidase) enzyme. It is inherited in an autosomal recessive fashion and both men and women are affected equally. We report here two families wherein the mutation analysis for the disease was performed as the clinical features of the child... view more»

DOI: 10.4172/2327-5790.1000132

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