FMR1 gene mutations in patients with fragile X syndrome and obligate carriers: 30 years of experience in Chile

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FMR1 gene mutations in patients with fragile X syndrome and obligate carriers: 30 years of experience in Chile

机译：脆弱X综合征患者的FMR1基因突变和智利的30年经验

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《Genetics Research》 |2016年第null期|共8页
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1. FMR1 gene mutations in patients with fragile X syndrome and obligate carriers: 30 years of experience in Chile [J] . Santa Maria Lorena, Aliaga Solange, Faundes Victor, Genetics Research . 2016,第Null期

机译：脆性X综合征和专职携带者的FMR1基因突变：在智利拥有30年的经验
2. FMR1 gene mutations in patients with fragile X syndrome and obligate carriers: 30 years of experience in Chile [J] . SANTA MARíA LORENA, ALIAGA SOLANGE, FAUNDES VíCTOR, Genetics research. . 2016,第3期

机译：脆性X综合征和专职携带者的FMR1基因突变：在智利拥有30年的经验
3. FMR1 gene mutations in patients with fragile X syndrome and obligate carriers: 30 years of experience in Chile [J] . Genetics Research . 2016,第Null期

机译：脆弱X综合征患者的FMR1基因突变和智利的30年经验
4. Quantification of Neural Activity in FMR1 Premutation Carriers during a Dynamic Sway Task using Source Localization* [C] . Alan Gaul, Clodagh O’Keeffe, Manuel Carro Domínguez, Annual International Conference of the IEEE Engineering in Medicine and Biology Society . 2020

机译：使用源定位对动态摇摆任务中FMR1突变载体的神经活动进行量化*
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. FMR1 gene mutations in patients with fragile X syndrome and obligate carriers: 30 years of experience in Chile [O] . LORENA SANTA MARÍA, SOLANGE ALIAGA, VÍCTOR FAUNDES, 2016

机译：脆性X综合征和专职携带者的FMR1基因突变：在智利拥有30年的经验
7. 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 [O] . Feras M Hantash, Dana M Goos, Beryl Crossley, 2010

机译：FMR1可预级载体频率在接受常规人口载体筛查的患者：洞察易患X综合征，脆弱的X相关的震颤/共济失调综合征，以及美国脆弱的X相关原发卵巢不足

FMR1 gene mutations in patients with fragile X syndrome and obligate carriers: 30 years of experience in Chile

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