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Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency.
Deshpande D, Gupta SK, Sarma AS, Ranganath P, Jain S JMN, Sheth J, Mistri M, Gupta N, Kabra M, Phadke SR, Girisha KM, Dua Puri R, Aggarwal S, Datar C, Mandal K, Tilak P, Muranjan M, Bijarnia-Mahay S, Rama Devi A R, Tayade NB, Ranjan A, Dalal AB. Deshpande D, et al. Among authors: mistri m. Hum Mutat. 2021 Oct;42(10):1336-1350. doi: 10.1002/humu.24263. Epub 2021 Aug 3. Hum Mutat. 2021. PMID: 34273913
Diagnostic strategy for mucolipidosis II/III.
Sheth J, Mistri M, Kamate M, Vaja S, Sheth FJ. Sheth J, et al. Among authors: mistri m. Indian Pediatr. 2012 Dec;49(12):975-7. doi: 10.1007/s13312-012-0247-6. Epub 2012 Jun 10. Indian Pediatr. 2012. PMID: 22728628
Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease.
Ankleshwaria C, Mistri M, Bavdekar A, Muranjan M, Dave U, Tamhankar P, Khanna V, Jasinge E, Nampoothiri S, Edayankara Kadangot S, Sheth F, Gupta S, Sheth J. Ankleshwaria C, et al. Among authors: mistri m. J Hum Genet. 2014 Apr;59(4):223-8. doi: 10.1038/jhg.2014.5. Epub 2014 Feb 13. J Hum Genet. 2014. PMID: 24522292
Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease.
Ankleshwaria C, Mistri M, Bavdekar A, Muranjan M, Dave U, Tamhankar P, Khanna V, Jasinge E, Nampoothiri S, Edayankara Kadangot S, Sheth F, Gupta S, Sheth J. Ankleshwaria C, et al. Among authors: mistri m. J Hum Genet. 2015 May;60(5):285. doi: 10.1038/jhg.2015.27. J Hum Genet. 2015. PMID: 26008600 No abstract available.
68 results