Browsing Biomedical Sciences by Author "Tanwar, Himani"
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Bioinformatics classification of mutations in patients with Mucopolysaccharidosis IIIA
Tanwar, Himani; Kumar, D Thirumal; Doss, C George Priya; Zayed, Hatem ( Springer US , 2019 , Article)Mucopolysaccharidosis (MPS) IIIA, also known as Sanfilippo syndrome type A, is a severe, progressive disease that affects the central nervous system (CNS). MPS IIIA is inherited in an autosomal recessive manner and is ... -
Structural Analysis of G1691S Variant in the Human Filamin B Gene Responsible for Larsen Syndrome: A Comparative Computational Approach
P., Sneha; D., Kumar Thirumal; Tanwar, Himani; R., Siva; C., George Priya Doss; Zayed, Hatem... more authors ... less authors ( Wiley Periodicals, Inc , 2017 , Article)Larsen syndrome (LRS) is a rare genetic disease associated with variable manifestations including skeletal malformations, dislocations of the large joints, and notable changes in facial and limb features. Genetic variants ...