A novel frameshift mutation of HEXA gene in the first family with classical infantile Tay-Sachs disease in Thailand

Boonchai Boonyawat; Charcrin Nabangchang; Piradee Suwanpakdee; Tim Phetthong

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A novel frameshift mutation of HEXA gene in the first family with classical infantile Tay-Sachs disease in Thailand

机译：泰国第一个经典婴儿Tay-Sachs病家族中HEXA基因的新型移码突变

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《Neurological Journal of South East Asia》 |2016年第3期|共页
作者
Boonchai Boonyawat; Charcrin Nabangchang; Piradee Suwanpakdee; Tim Phetthong;
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1. A novel frameshift mutation of HEXA gene in the first family with classical infantile Tay-Sachs disease in Thailand [J] . Boonyawat Boonchai, Phetthong Tim, Nabangchang Charcrin, Neurology Asia . 2016,第3期

机译：泰国古典婴儿茶汤病的第一个家庭中六何基因的一种新型突变突变
2. Identification of two HEXA mutations causing infantile-onset Tay-Sachs disease in the Persian population. [J] . Rezazadeh J, Shadmehri AA, Haghighi A, Journal of human genetics . 2011,第9期

机译：在波斯人群中鉴定出两个导致婴儿发作的泰-萨克斯病的HEXA突变。
3. Whole exome sequencing reveals a homozygous nonsense mutation in?HEXA gene leading to Tay-Sachs disease in Saudi Family [J] . Muhammad Imran Naseer, Angham Abdulrahman Abdulkareem, Mohammed Mohammed Jan, Pakistan journal of medical sciences. . 2020,第6期

机译：整体exome测序揭示了在沙特家族的甲己基因中纯合的无意义突变？在沙特家族中导致Tay-Sachs病
4. MutationView: An Integrated Knowledge Base for Mutations and Polymorphisms in Human Disease Genes - Automatical Extraction of Disease-Associated Knowledge - [C] . Masafumi Ohtsubo, Susumu Mitsuyama, Takashi Kawamura, International Conference on Genome Informatics . 2003

机译：突变视图：人类疾病基因突变和多态性的综合知识基础 - 疾病相关知识的自动提取 -
5. Targeted gene repair of frameshift mutations: Insights into the mechanism and applications for gene therapy [D] . Maguire, Katie K. 2007

机译：移码突变的靶向基因修复：深入了解基因治疗的机制和应用
6. Identification of novel mutations in HEXA gene in children affected with Tay-Sachs disease from India [O] . Mehul Mistri, Chaitanya Datar, Frenny Sheth, 2014

机译：印度Tay-Sachs病患儿HEXA基因新突变的鉴定
7. Whole exome sequencing reveals a homozygous nonsense mutation in HEXA gene leading to Tay-Sachs disease in Saudi Family [O] . Muhammad Imran Naseer, Angham Abdulrahman Abdulkareem, Mohammed Mohammed Jan, 2020

机译：整体exome测序揭示了在沙特家族的甲瘤基因中的纯合无意义突变导致Tay-Sachs病

A novel frameshift mutation of HEXA gene in the first family with classical infantile Tay-Sachs disease in Thailand

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