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Development of Genetic Testing for Fragile X Syndrome and Associated Disorders, and Estimates of the Prevalence of FMR1 Expansion Mutations

机译：脆性X综合征及相关疾病的基因检测的发展，以及FmR1扩增突变的患病率估计

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James N. Macpherson; Anna Murray;
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1. Development of Genetic Testing for Fragile X Syndrome and Associated Disorders, and Estimates of the Prevalence of FMR1 Expansion Mutations [J] . James N. Macpherson, Anna Murray Genes . 2016,第12期

机译：易碎X综合征和相关疾病的遗传学测试的发展，以及FMR1扩展突变患病率的估计
2. FMR1 premutation carrier frequency in patients undergoing routine population-based carrier screening: insights into the prevalence of fragile X syndrome, fragile X-associated tremor/ataxia syndrome, and fragile X-associated primary ovarian insufficiency in the United States. [J] . Hantash FM, Goos DM, Crossley B, Genetics in medicine . 2011,第1期

机译：接受常规人群基础载体筛查的患者中FMR1突变的载频：对脆性X综合征，脆性X相关性震颤/共济失调和脆性X相关性卵巢原发性供血不足的见解。
3. FMR1 gene mutations cause neurodevelopmental-degenerative disorders: Importance of fragile X testing in Serbia [J] . Budimirovic Dejan B., Protic Dragana Vojnosanitetski Pregled . 2016,第12期

机译：FMR1基因突变导致神经发育退行性疾病：脆弱的X测试在塞尔维亚的重要性
4. Prevalence and Accuracy Measures of Diagnostic Tests for Metabolic Syndrome in Multi-ethnic Groups [C] . Fazeelat Mazhar, Bilal Wajid, Faria Anwar, International Multi-Conference on Systems, Signals amp;amp;amp;amp;amp;amp; Devices . 2019

机译：多族群代谢综合征诊断试验的患病率及准确度措施
5. Genetic interaction between Fmr1 and Grm5: A role for mGluR5 in the pathogenesis of fragile X syndrome [D] . Dolen, Gul 2008

机译：Fmr1和Grm5之间的遗传相互作用：mGluR5在脆性X综合征发病机理中的作用
6. Development of Genetic Testing for Fragile X Syndrome and Associated Disorders and Estimates of the Prevalence of FMR1 Expansion Mutations [O] . James N. Macpherson, Anna Murray 2016

机译：易碎X综合征和相关疾病的遗传学测试的发展以及FMR1扩展突变患病率的估计
7. Development of genetic testing for Fragile X syndrome and associated disorders, and estimates of the prevalence of FMR1 expansion mutations [O] . Macpherson, JN, Murray, A 2016

机译：进行脆性X综合征和相关疾病的遗传学检测以及FMR1扩展突变发生率的估计

Development of Genetic Testing for Fragile X Syndrome and Associated Disorders, and Estimates of the Prevalence of FMR1 Expansion Mutations

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