Novel mutations, including the second most common in Japan, in the β-hexosaminidase α subunit gene, and a simple screening of Japanese patients with Tay-Sachs disease-Reference-Cited by-同舟云学术

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Novel mutations, including the second most common in Japan, in the β-hexosaminidase α subunit gene, and a simple screening of Japanese patients with Tay-Sachs disease

Published:1999-03 Issue:2 Volume:44 Page:91-95
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Tanaka A.,Fujimaru Mutsuko,Choeh Kyuchul,Isshiki Gen

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/jhg199921.pdf

Cited by 9 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68 Iranian Patients;Journal of Molecular Neuroscience;2021-09-23

2. Identification of novel variants in a large cohort of children with Tay–Sachs disease: An initiative of a multicentric task force on lysosomal storage disorders by Government of India;Journal of Human Genetics;2019-08-06

3. Tay-Sachs Disease Presenting as Refractory Epilepsy with Autistic Regression Secondary to a Novel Mutation in HEXA Gene;The Indian Journal of Pediatrics;2018-07-14

4. Clinical Applications and Implications of Common and Founder Mutations in Indian Subpopulations;Human Mutation;2014-11-27

5. Expanding the spectrum of HEXA mutations in Indian patients with Tay–Sachs disease;Molecular Genetics and Metabolism Reports;2014

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