Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation.
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| Title: | Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation. |
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| Authors: | Sheth J; FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, Gujarat, 380015, India. jshethad1@gmail.com., Bhavsar R; FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, Gujarat, 380015, India., Mistri M; FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, Gujarat, 380015, India., Pancholi D; FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, Gujarat, 380015, India., Bavdekar A; King Edward Memorial Hospital, Pune, 411011, India., Dalal A; Centre for DNA Fingerprinting and Diagnostics, Hyderabad, 500039, India., Ranganath P; Centre for DNA Fingerprinting and Diagnostics, Hyderabad, 500039, India., Girisha KM; Kasturba Medical College, Tiger Cir Rd, Madhav Nagar, Manipal, 576104, Karnataka, India., Shukla A; Kasturba Medical College, Tiger Cir Rd, Madhav Nagar, Manipal, 576104, Karnataka, India., Phadke S; Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, 226014, India., Puri R; Sir Ganga Ram Hospital, New Delhi, 110060, India., Panigrahi I; The Postgraduate Institute of Medical Education and Research, Chandigarh, 160012, India., Kaur A; The Postgraduate Institute of Medical Education and Research, Chandigarh, 160012, India., Muranjan M; King Edward Memorial Hospital, Mumbai, 400012, India., Goyal M; J.K. Lone Mother and Child Hospital, Jaipur, 302004, India., Ramadevi R; Rainbow Children's Hospital, Telangana, 500034, India., Shah R; Ankur Institute of Child Health, Ahmedabad, 380009, India., Nampoothiri S; Amrita Institute of Medical Sciences & Research Centre, Cochin, 682041, India., Danda S; Christian Medical College & Hospital, Vellore, 632004, India., Datar C; Sahyadri Medical Genetics & Tissue Engineering Facility, Pune, 411038, India., Kapoor S; Maulana Azad medical College and Associated Loknayak Hospital, New Delhi, 110002, India., Bhatwadekar S; Sterling Hospital, Ahmedabad, 380052, India., Sheth F; FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, Gujarat, 380015, India. |
| Source: | BMC medical genetics [BMC Med Genet] 2019 Feb 14; Vol. 20 (1), pp. 31. Date of Electronic Publication: 2019 Feb 14. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350 (Electronic) Linking ISSN: 14712350 NLM ISO Abbreviation: BMC Med Genet |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1471-2350 |
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| DOI: | 10.1186/s12881-019-0759-1 |
