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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.
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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  Data: Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation.
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  Data: <searchLink fieldCode="AU" term="%22Sheth+J%22">Sheth J</searchLink>; FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, Gujarat, 380015, India. jshethad1@gmail.com.<br /><searchLink fieldCode="AU" term="%22Bhavsar+R%22">Bhavsar R</searchLink>; FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, Gujarat, 380015, India.<br /><searchLink fieldCode="AU" term="%22Mistri+M%22">Mistri M</searchLink>; FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, Gujarat, 380015, India.<br /><searchLink fieldCode="AU" term="%22Pancholi+D%22">Pancholi D</searchLink>; FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, Gujarat, 380015, India.<br /><searchLink fieldCode="AU" term="%22Bavdekar+A%22">Bavdekar A</searchLink>; King Edward Memorial Hospital, Pune, 411011, India.<br /><searchLink fieldCode="AU" term="%22Dalal+A%22">Dalal A</searchLink>; Centre for DNA Fingerprinting and Diagnostics, Hyderabad, 500039, India.<br /><searchLink fieldCode="AU" term="%22Ranganath+P%22">Ranganath P</searchLink>; Centre for DNA Fingerprinting and Diagnostics, Hyderabad, 500039, India.<br /><searchLink fieldCode="AU" term="%22Girisha+KM%22">Girisha KM</searchLink>; Kasturba Medical College, Tiger Cir Rd, Madhav Nagar, Manipal, 576104, Karnataka, India.<br /><searchLink fieldCode="AU" term="%22Shukla+A%22">Shukla A</searchLink>; Kasturba Medical College, Tiger Cir Rd, Madhav Nagar, Manipal, 576104, Karnataka, India.<br /><searchLink fieldCode="AU" term="%22Phadke+S%22">Phadke S</searchLink>; Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, 226014, India.<br /><searchLink fieldCode="AU" term="%22Puri+R%22">Puri R</searchLink>; Sir Ganga Ram Hospital, New Delhi, 110060, India.<br /><searchLink fieldCode="AU" term="%22Panigrahi+I%22">Panigrahi I</searchLink>; The Postgraduate Institute of Medical Education and Research, Chandigarh, 160012, India.<br /><searchLink fieldCode="AU" term="%22Kaur+A%22">Kaur A</searchLink>; The Postgraduate Institute of Medical Education and Research, Chandigarh, 160012, India.<br /><searchLink fieldCode="AU" term="%22Muranjan+M%22">Muranjan M</searchLink>; King Edward Memorial Hospital, Mumbai, 400012, India.<br /><searchLink fieldCode="AU" term="%22Goyal+M%22">Goyal M</searchLink>; J.K. Lone Mother and Child Hospital, Jaipur, 302004, India.<br /><searchLink fieldCode="AU" term="%22Ramadevi+R%22">Ramadevi R</searchLink>; Rainbow Children's Hospital, Telangana, 500034, India.<br /><searchLink fieldCode="AU" term="%22Shah+R%22">Shah R</searchLink>; Ankur Institute of Child Health, Ahmedabad, 380009, India.<br /><searchLink fieldCode="AU" term="%22Nampoothiri+S%22">Nampoothiri S</searchLink>; Amrita Institute of Medical Sciences & Research Centre, Cochin, 682041, India.<br /><searchLink fieldCode="AU" term="%22Danda+S%22">Danda S</searchLink>; Christian Medical College & Hospital, Vellore, 632004, India.<br /><searchLink fieldCode="AU" term="%22Datar+C%22">Datar C</searchLink>; Sahyadri Medical Genetics & Tissue Engineering Facility, Pune, 411038, India.<br /><searchLink fieldCode="AU" term="%22Kapoor+S%22">Kapoor S</searchLink>; Maulana Azad medical College and Associated Loknayak Hospital, New Delhi, 110002, India.<br /><searchLink fieldCode="AU" term="%22Bhatwadekar+S%22">Bhatwadekar S</searchLink>; Sterling Hospital, Ahmedabad, 380052, India.<br /><searchLink fieldCode="AU" term="%22Sheth+F%22">Sheth F</searchLink>; FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, Gujarat, 380015, India.
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  Data: <searchLink fieldCode="JN" term="%22100968552%22">BMC medical genetics</searchLink> [BMC Med Genet] 2019 Feb 14; Vol. 20 (1), pp. 31. <i>Date of Electronic Publication: </i>2019 Feb 14.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>100968552 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1471-2350 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2214712350%22">14712350 </searchLink><i>NLM ISO Abbreviation: </i>BMC Med Genet
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