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GM2 gangliosidosis AB variant: novel mutation from India - a case report with a review.

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Title: GM2 gangliosidosis AB variant: novel mutation from India - a case report with a review.
Authors: Sheth J; Department of Biochemical and Molecular Genetics, FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, 380015, Gujarat, India. jshethad1@gmail.com., Datar C; Sahyadari Medical Genetics and Tissue engineering facility (SMGTEF), Pune, 411005, India., Mistri M; Department of Biochemical and Molecular Genetics, FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, 380015, Gujarat, India., Bhavsar R; Department of Biochemical and Molecular Genetics, FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, 380015, Gujarat, India., Sheth F; Department of Biochemical and Molecular Genetics, FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, 380015, Gujarat, India., Shah K; Department of Biochemical and Molecular Genetics, FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, 380015, Gujarat, India.
Source: BMC pediatrics [BMC Pediatr] 2016 Jul 11; Vol. 16, pp. 88. Date of Electronic Publication: 2016 Jul 11.
Publication Type: Case Reports; Journal Article; Review; Research Support, Non-U.S. Gov't
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 100967804 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2431 (Electronic) Linking ISSN: 14712431 NLM ISO Abbreviation: BMC Pediatr Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: GM2 gangliosidosis AB variant: novel mutation from India - a case report with a review.
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  Data: <searchLink fieldCode="AU" term="%22Sheth+J%22">Sheth J</searchLink>; Department of Biochemical and Molecular Genetics, FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, 380015, Gujarat, India. jshethad1@gmail.com.<br /><searchLink fieldCode="AU" term="%22Datar+C%22">Datar C</searchLink>; Sahyadari Medical Genetics and Tissue engineering facility (SMGTEF), Pune, 411005, India.<br /><searchLink fieldCode="AU" term="%22Mistri+M%22">Mistri M</searchLink>; Department of Biochemical and Molecular Genetics, FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, 380015, Gujarat, India.<br /><searchLink fieldCode="AU" term="%22Bhavsar+R%22">Bhavsar R</searchLink>; Department of Biochemical and Molecular Genetics, FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, 380015, Gujarat, India.<br /><searchLink fieldCode="AU" term="%22Sheth+F%22">Sheth F</searchLink>; Department of Biochemical and Molecular Genetics, FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, 380015, Gujarat, India.<br /><searchLink fieldCode="AU" term="%22Shah+K%22">Shah K</searchLink>; Department of Biochemical and Molecular Genetics, FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, 380015, Gujarat, India.
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  Data: <searchLink fieldCode="JN" term="%22100967804%22">BMC pediatrics</searchLink> [BMC Pediatr] 2016 Jul 11; Vol. 16, pp. 88. <i>Date of Electronic Publication: </i>2016 Jul 11.
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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>100967804 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1471-2431 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2214712431%22">14712431 </searchLink><i>NLM ISO Abbreviation: </i>BMC Pediatr <i>Subsets: </i>MEDLINE
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        Value: 10.1186/s12887-016-0626-6
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      – TitleFull: GM2 gangliosidosis AB variant: novel mutation from India - a case report with a review.
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              Text: 2016 Jul 11
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