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Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III.

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Title: Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III.
Authors: Pasumarthi D; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India., Gupta N; Division of Genetics, Department of Pediatrics, AIIMS, New Delhi, India., Sheth J; Institute of Human Genetics, FRIGE House, Ahmedabad, GJ, India., Jain SJMN; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India., Rungsung I; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India., Kabra M; Division of Genetics, Department of Pediatrics, AIIMS, New Delhi, India., Ranganath P; Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, Telangana, India., Aggarwal S; Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, Telangana, India., Phadke SR; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, UP, India., Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, KA, India., Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, KA, India., Datar C; Bharati Hospital and Research Center, Bharati Hospital and Research Center, Pune, MH, India., Verma IC; Center of Medical Genetics, Sir Ganga Ram hospital, New Delhi, India., Puri RD; Center of Medical Genetics, Sir Ganga Ram hospital, New Delhi, India., Bhavsar R; Institute of Human Genetics, FRIGE House, Ahmedabad, GJ, India., Mistry M; Institute of Human Genetics, FRIGE House, Ahmedabad, GJ, India., Sankar VH; Genetics Clinic, Department of Pediatrics, SAT Hospital, Government Medical College, Trivandrum, KL, India., Gowrishankar K; Kanchi Kamakoti CHILDS Trust Hospital, Chennai, TN, India., Agrawal D; Center of Medical Genetics, Sir Ganga Ram hospital, New Delhi, India., Nair M; Additional Professor in Pediatrics, Government Medical College, Calicut, Kerala, India., Danda S; ChristianMedical College and Hospital, Vellore, TN, India., Soni JP; Professor, Dr. S. N. Medical College, Jodhpur, India., Dalal A; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India. adalal@cdfd.org.in.
Source: Journal of human genetics [J Hum Genet] 2020 Nov; Vol. 65 (11), pp. 971-984. Date of Electronic Publication: 2020 Jul 10.
Publication Type: Journal Article
Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J Hum Genet Subsets: MEDLINE
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  Data: Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III.
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  Data: <searchLink fieldCode="AU" term="%22Pasumarthi+D%22">Pasumarthi D</searchLink>; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, 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="%22Sheth+J%22">Sheth J</searchLink>; Institute of Human Genetics, FRIGE House, Ahmedabad, GJ, India.<br /><searchLink fieldCode="AU" term="%22Jain+SJMN%22">Jain SJMN</searchLink>; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India.<br /><searchLink fieldCode="AU" term="%22Rungsung+I%22">Rungsung I</searchLink>; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, 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="%22Ranganath+P%22">Ranganath P</searchLink>; Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, Telangana, India.<br /><searchLink fieldCode="AU" term="%22Aggarwal+S%22">Aggarwal S</searchLink>; Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, Telangana, India.<br /><searchLink fieldCode="AU" term="%22Phadke+SR%22">Phadke SR</searchLink>; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, UP, 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, KA, India.<br /><searchLink fieldCode="AU" term="%22Shukla+A%22">Shukla A</searchLink>; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, KA, India.<br /><searchLink fieldCode="AU" term="%22Datar+C%22">Datar C</searchLink>; Bharati Hospital and Research Center, Bharati Hospital and Research Center, Pune, MH, India.<br /><searchLink fieldCode="AU" term="%22Verma+IC%22">Verma IC</searchLink>; Center of Medical Genetics, Sir Ganga Ram hospital, New Delhi, India.<br /><searchLink fieldCode="AU" term="%22Puri+RD%22">Puri RD</searchLink>; Center of Medical Genetics, Sir Ganga Ram hospital, New Delhi, India.<br /><searchLink fieldCode="AU" term="%22Bhavsar+R%22">Bhavsar R</searchLink>; Institute of Human Genetics, FRIGE House, Ahmedabad, GJ, India.<br /><searchLink fieldCode="AU" term="%22Mistry+M%22">Mistry M</searchLink>; Institute of Human Genetics, FRIGE House, Ahmedabad, GJ, India.<br /><searchLink fieldCode="AU" term="%22Sankar+VH%22">Sankar VH</searchLink>; Genetics Clinic, Department of Pediatrics, SAT Hospital, Government Medical College, Trivandrum, KL, India.<br /><searchLink fieldCode="AU" term="%22Gowrishankar+K%22">Gowrishankar K</searchLink>; Kanchi Kamakoti CHILDS Trust Hospital, Chennai, TN, India.<br /><searchLink fieldCode="AU" term="%22Agrawal+D%22">Agrawal D</searchLink>; Center of Medical Genetics, Sir Ganga Ram hospital, New Delhi, India.<br /><searchLink fieldCode="AU" term="%22Nair+M%22">Nair M</searchLink>; Additional Professor in Pediatrics, Government Medical College, Calicut, Kerala, India.<br /><searchLink fieldCode="AU" term="%22Danda+S%22">Danda S</searchLink>; ChristianMedical College and Hospital, Vellore, TN, India.<br /><searchLink fieldCode="AU" term="%22Soni+JP%22">Soni JP</searchLink>; Professor, Dr. S. N. Medical College, Jodhpur, India.<br /><searchLink fieldCode="AU" term="%22Dalal+A%22">Dalal A</searchLink>; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India. adalal@cdfd.org.in.
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