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Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III.
Pasumarthi, Divya; Gupta, Neerja; Sheth, Jayesh; Jain, S Jamal Md Nurul; Rungsung, Ikrormi; Kabra, Madhulika; Ranganath, Prajnya; Aggarwal, Shagun; Phadke, Shubha R; Girisha, Katta M; Shukla, Anju; Datar, Chaitanya; Verma, Ishwar C; Puri, Ratna Dua; Bhavsar, Riddhi; Mistry, Mehul; Sankar, V H; Gowrishankar, Kalpana; Agrawal, Divya; Nair, Mohandas; Danda, Sumita; Soni, Jai Prakash; Dalal, Ashwin.
Affiliation
  • 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.
J Hum Genet ; 65(11): 971-984, 2020 Nov.
Article in En | MEDLINE | ID: mdl-32651481
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Transferases (Other Substituted Phosphate Groups) / Mucolipidoses Type of study: Diagnostic_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Country/Region as subject: Asia Language: En Journal: J Hum Genet Journal subject: GENETICA MEDICA Year: 2020 Type: Article Affiliation country: India
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Transferases (Other Substituted Phosphate Groups) / Mucolipidoses Type of study: Diagnostic_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Country/Region as subject: Asia Language: En Journal: J Hum Genet Journal subject: GENETICA MEDICA Year: 2020 Type: Article Affiliation country: India