Expanding the spectrum of <i>HEXA</i> mutations in Indian patients with Tay-Sachs disease.

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第一作者： Jayesh,Sheth

第一单位： Department of Biochemical and Molecular Genetics, FRIGE's Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad 380015, India.

作者： Jayesh,Sheth ^[1] ; Mehul,Mistri ^[1] ; Chaitanya,Datar ^[2] ; Umesh,Kalane ^[2] ; Shekhar,Patil ^[3] ; Mahesh,Kamate ^[4] ; Harshuti,Shah ^[5] ; Sheela,Nampoothiri ^[6] ; Sarita,Gupta ^[7] ; Frenny,Sheth ^[1]

作者单位： Department of Biochemical and Molecular Genetics, FRIGE's Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad 380015, India. ^[1] Department of Genetics, Clinical Geneticist, Sahyadri Medical Genetics and Tissue Engineering Facility (SMGTEF), Pune, India. ^[2] Department of Pediatric Neurology, Hiranandani Hospital, Mumbai, Maharashtra, India. ^[3] Department of Pediatric Neurology, KLES Prabhakar Kore Hospital, Belgaum, Karnataka, India. ^[4] Rajvee Child Neuro Hospital, Memnagar, Ahmedabad, India. ^[5] Department of Pediatric Genetics, Amrita Institute of Medical Science & Research Centre, AIMS Ponekkara PO, Cochin, Kerala, India. ^[6] Department of Biochemistry, Faculty of Science, M.S. University of Baroda, Vadodara, Gujarat, India. ^[7]

关键词 HEXA gene Hex-A, β-Hexosaminidase A LSDs, Lysosomal storage disorders Lysosomal enzyme MUG, 4-Methylumbelliferyl-N-acetyl-β-d-glucosamine MUGS, 4-Methylumbelliferyl-N-acetyl-β-d-glucosamine-6-sulfate SD, Sandhoff disease TSD, Tay–Sachs disease Tay–Sachs disease β-Hexosaminidase-A

DOI 10.1016/j.ymgmr.2014.09.004

PMID 27896118

发布时间 2020-09-30

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Molecular genetics and metabolism reports

2014年1卷

425-430页

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Expanding the spectrum of <i>HEXA</i> mutations in Indian patients with Tay-Sachs disease.

Molecular genetics and metabolism reports

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Molecular genetics and metabolism reports

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Expanding the spectrum of <i>HEXA</i> mutations in Indian patients with Tay-Sachs disease.

Molecular genetics and metabolism reports

相似文献

Molecular genetics and metabolism reports

相关期刊

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