3 Result(s)
within
Shubha Phadke
English
Gene Function
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Article
Further characterization of ATP6V0A2-related autosomal recessive cutis laxa
Autosomal recessive cutis laxa (ARCL) syndromes are phenotypically overlap**, but genetically heterogeneous disorders. Mutations in the ATP6V0A2 gene were found to underlie both, autosomal recessive cutis laxa ...
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Article
Open AccessBiochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India
Gaucher disease is a rare pan-ethnic disorder which occurs due to an increased accumulation of undegraded glycolipid glucocerebroside inside the cells’ lysosomes. A beta-Glucosidase (GBA) gene defect results in g...
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Article
Open AccessGaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation
Gaucher disease is a rare pan-ethnic, lysosomal storage disorder resulting due to beta-Glucosidase (GBA1) gene defect. This leads to the glucocerebrosidase enzyme deficiency and an increased accumulation of undeg...
