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

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Bibliographic Details
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

Description
ISSN:	1471-2431
DOI:	10.1186/s12887-016-0626-6