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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.
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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  Data: Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency.
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  Data: <searchLink fieldCode="AU" term="%22Deshpande+D%22">Deshpande D</searchLink>; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India.; Graduate Studies, Manipal Academy of Higher Education, Manipal, Karnataka, India.<br /><searchLink fieldCode="AU" term="%22Gupta+SK%22">Gupta SK</searchLink>; Laboratory of Computational and Functional Genomics, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India.<br /><searchLink fieldCode="AU" term="%22Sarma+AS%22">Sarma AS</searchLink>; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India.<br /><searchLink fieldCode="AU" term="%22Ranganath+P%22">Ranganath P</searchLink>; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India.; Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, Telangana, India.<br /><searchLink fieldCode="AU" term="%22Jain+S+JMN%22">Jain S JMN</searchLink>; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India.<br /><searchLink fieldCode="AU" term="%22Sheth+J%22">Sheth J</searchLink>; Institute of Human Genetics, FRIGE House, Ahmedabad, Gujarat, India.<br /><searchLink fieldCode="AU" term="%22Mistri+M%22">Mistri M</searchLink>; Institute of Human Genetics, FRIGE House, Ahmedabad, Gujarat, India.<br /><searchLink fieldCode="AU" term="%22Gupta+N%22">Gupta N</searchLink>; Division of Genetics, Department of Pediatrics, AIIMS, New Delhi, India.<br /><searchLink fieldCode="AU" term="%22Kabra+M%22">Kabra M</searchLink>; Division of Genetics, Department of Pediatrics, AIIMS, New Delhi, India.<br /><searchLink fieldCode="AU" term="%22Phadke+SR%22">Phadke SR</searchLink>; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.<br /><searchLink fieldCode="AU" term="%22Girisha+KM%22">Girisha KM</searchLink>; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, Karnataka, India.<br /><searchLink fieldCode="AU" term="%22Dua+Puri+R%22">Dua Puri R</searchLink>; Institute of Medical Genetics & Genomics, Sir Ganga Ram hospital, New Delhi, India.<br /><searchLink fieldCode="AU" term="%22Aggarwal+S%22">Aggarwal S</searchLink>; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India.; Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, Telangana, India.<br /><searchLink fieldCode="AU" term="%22Datar+C%22">Datar C</searchLink>; Bharati Hospital and Research Center, Pune, Maharashtra, India.<br /><searchLink fieldCode="AU" term="%22Mandal+K%22">Mandal K</searchLink>; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.<br /><searchLink fieldCode="AU" term="%22Tilak+P%22">Tilak P</searchLink>; Division of Human Genetics, St. John's National Academy of Health, Science, Bangalore, Karnataka, India.<br /><searchLink fieldCode="AU" term="%22Muranjan+M%22">Muranjan M</searchLink>; Genetic Clinic, Department of Pediatrics, Seth GS Medical College & KEM Hospital, Mumbai, India.<br /><searchLink fieldCode="AU" term="%22Bijarnia-Mahay+S%22">Bijarnia-Mahay S</searchLink>; Institute of Medical Genetics & Genomics, Sir Ganga Ram hospital, New Delhi, India.<br /><searchLink fieldCode="AU" term="%22Rama+Devi+A+R%22">Rama Devi A R</searchLink>; Rainbow Hospitals, Hyderabad, India.<br /><searchLink fieldCode="AU" term="%22Tayade+NB%22">Tayade NB</searchLink>; Life Care Hospital, Amravati, India.; Dr. Panjabarao Deshmukh Medical College Amravati, India.<br /><searchLink fieldCode="AU" term="%22Ranjan+A%22">Ranjan A</searchLink>; Laboratory of Computational and Functional Genomics, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India.<br /><searchLink fieldCode="AU" term="%22Dalal+AB%22">Dalal AB</searchLink>; 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.
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  Data: <searchLink fieldCode="JN" term="%229215429%22">Human mutation</searchLink> [Hum Mutat] 2021 Oct; Vol. 42 (10), pp. 1336-1350. <i>Date of Electronic Publication: </i>2021 Aug 03.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Liss%22">Wiley-Liss </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9215429 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1098-1004 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210597794%22">10597794 </searchLink><i>NLM ISO Abbreviation: </i>Hum Mutat <i>Subsets: </i>MEDLINE
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