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Hindi Journal of Genetic Disorders & Genetic ReportsISSN: 2327-5790
Anjana Munshi Author
Subjects of specialization
Affiliation
Lysosomal Storage Disorders
PhD, Centre for Human Genetics and Molecular Medicine, School of Health Sciences, Central University of Punjab, Bathinda, India
Biography
Anjana Munshi belongs to Centre for Human Genetics and Molecular Medicine intrested in the field Lysosomal Storage Disorders (LSD); Gaucher Disease (GD); Acid β-glucosidase glucocerebrosidase enzyme from School of Health Sciences, Central University of Punjab, Bathinda, 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»
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