2026-10-12T20:48:00Z https://api.figshare.com/v2/oai

oai:figshare.com:article/33919123 2026-09-18T03:46:20Z category_4 category_7 category_12 category_13 category_15 category_21 category_873 category_46 category_734 category_64 category_135 portal_81 item_type_3 month_year_09_2026

Additional file 1 of Clinical, biochemical and molecular spectrum of acute neuronopathic type 2 Gaucher disease from India Jayesh Sheth (15267017) Aadhira Nair (12905263) Riddhi Bhavsar (5211767) Mamta Muranjan (6339701) Sheela Nampoothiri (5229311) Dhanya Yesodharan (5229305) Anupriya Kaur (6339698) Raju C Shah (25069039) Prajnya Ranganath (6339692) Shagun Agrawal (17964770) Aditi Baluni (24707863) Niyati Saini (24707860) Ashwin Dalal (840884) Frenny Sheth (318968) Harsh Sheth (4843305) Biochemistry Medicine Cell Biology Genetics Neuroscience Biotechnology Chemical Sciences not elsewhere classified Immunology Biological Sciences not elsewhere classified Cancer Computational Biology Type 2 Gaucher disease GBA1 neuronopathic P.Leu483Pro P.Met124Arg Recurrent variant Oculomotor apraxia And dysphagia Additional File 1: List of primers used for PCR-RFLP for the common variant c.1448T>C (p.Leu483Pro) in the GBA1 gene and primers used for Sanger sequencing of exons 1-11 of the GBA1 gene. 2026-06-27T05:00:00Z Dataset Dataset 10.6084/m9.figshare.33919123.v1 https://figshare.com/articles/dataset/Additional_file_1_of_Clinical_biochemical_and_molecular_spectrum_of_acute_neuronopathic_type_2_Gaucher_disease_from_India/33919123 CC BY