Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency.
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| Title: | Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency. |
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| Authors: | Deshpande D; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India.; Graduate Studies, Manipal Academy of Higher Education, Manipal, Karnataka, India., Gupta SK; Laboratory of Computational and Functional Genomics, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India., Sarma AS; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India., Ranganath P; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India.; Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, Telangana, India., Jain S JMN; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India., Sheth J; Institute of Human Genetics, FRIGE House, Ahmedabad, Gujarat, India., Mistri M; Institute of Human Genetics, FRIGE House, Ahmedabad, Gujarat, India., Gupta N; Division of Genetics, Department of Pediatrics, AIIMS, New Delhi, India., Kabra M; Division of Genetics, Department of Pediatrics, AIIMS, New Delhi, India., Phadke SR; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India., Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, Karnataka, India., Dua Puri R; Institute of Medical Genetics & Genomics, Sir Ganga Ram hospital, New Delhi, India., Aggarwal S; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India.; Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, Telangana, India., Datar C; Bharati Hospital and Research Center, Pune, Maharashtra, India., Mandal K; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India., Tilak P; Division of Human Genetics, St. John's National Academy of Health, Science, Bangalore, Karnataka, India., Muranjan M; Genetic Clinic, Department of Pediatrics, Seth GS Medical College & KEM Hospital, Mumbai, India., Bijarnia-Mahay S; Institute of Medical Genetics & Genomics, Sir Ganga Ram hospital, New Delhi, India., Rama Devi A R; Rainbow Hospitals, Hyderabad, India., Tayade NB; Life Care Hospital, Amravati, India.; Dr. Panjabarao Deshmukh Medical College Amravati, India., Ranjan A; Laboratory of Computational and Functional Genomics, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India., Dalal AB; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India.; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, Karnataka, India. |
| Source: | Human mutation [Hum Mutat] 2021 Oct; Vol. 42 (10), pp. 1336-1350. Date of Electronic Publication: 2021 Aug 03. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1098-1004 |
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| DOI: | 10.1002/humu.24263 |
