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
Database: MEDLINE Ultimate
Description
ISSN:1435-232X
DOI:10.1038/s10038-020-0797-8