机译:GPAA1中的突变,编码GPI碳化酶复合蛋白,导致发育延迟,癫痫,小脑萎缩和骨质脑病
Centre Hospitalier Universitaire Sainte Justine Research Center University of Montreal Montreal;
Yabumoto Department of Intractable Disease Research Research Institute for Microbial Diseases and;
Faculty of Medicine and Health University of Leeds Leeds LS2 9JT UK;
Centre Hospitalier Universitaire Sainte Justine Research Center University of Montreal Montreal;
Centre Hospitalier Universitaire Sainte Justine Research Center University of Montreal Montreal;
Centre Hospitalier Universitaire Sainte Justine Research Center University of Montreal Montreal;
Howard Hughes Medical Institute Rady Children’s Institute for Genomic Medicine Department of;
Centre Hospitalier Universitaire Sainte Justine Research Center University of Montreal Montreal;
Department of Pediatrics Vanderbilt University Medical Center Nashville TN 37232 USA;
Department of Pediatrics Vanderbilt University Medical Center Nashville TN 37232 USA;
Department of Pediatrics Vanderbilt University Medical Center Nashville TN 37232 USA;
Departments of Pediatrics Neurological Sciences and Biochemistry Rush University Medical Center;
Department of Molecular and Human Genetics Baylor College of Medicine Houston TX 77030 USA;
Centre Hospitalier Universitaire Sainte Justine Research Center University of Montreal Montreal;
Faculty of Medicine and Health University of Leeds Leeds LS2 9JT UK;
Faculty of Medicine and Health University of Leeds Leeds LS2 9JT UK;
Faculty of Medicine and Health University of Leeds Leeds LS2 9JT UK;
Faculty of Medicine and Health University of Leeds Leeds LS2 9JT UK;
Department of Radiology Bradford Royal Infirmary Duckworth Lane Bradford BD9 6RJ UK;
Department of Molecular and Human Genetics Baylor College of Medicine Houston TX 77030 USA;
Comprehensive Epilepsy Program Jane and John Justin Neuroscience Center Cook Children’s Medical;
Sheffield Children’s Hospital NHS Foundation Trust Western Bank Sheffield S10 2TH UK;
Centre Hospitalier Universitaire Sainte Justine Research Center University of Montreal Montreal;
Clinical Genetics Department Human Genetics and Genome Research Division National Research Centre;
Research Programs Unit Molecular Neurology University of Helsinki 00290 Helsinki Finland;
Research Programs Unit Molecular Neurology University of Helsinki 00290 Helsinki Finland;
Department of Child Neurology Children’s Hospital University of Helsinki and Helsinki University;
Research Programs Unit Molecular Neurology University of Helsinki 00290 Helsinki Finland;
Faculty of Medicine and Health University of Leeds Leeds LS2 9JT UK;
Howard Hughes Medical Institute Rady Children’s Institute for Genomic Medicine Department of;
Yabumoto Department of Intractable Disease Research Research Institute for Microbial Diseases and;
Centre Hospitalier Universitaire Sainte Justine Research Center University of Montreal Montreal;
GPAA1; glycosylphosphatidylinositol; osteopenia; epilepsy; seizures; GPAA1; glycosylphosphatidylinositol; GPI; alkaline phosphatase; osteopenia; epilepsy; seizures;
机译:GPAA1中的突变,编码GPI碳化酶复合蛋白,导致发育延迟,癫痫,小脑萎缩和骨质脑病
机译:PIGN突变会导致先天性异常,发育延迟,肌张力低下,癫痫和进行性小脑萎缩
机译:转酰胺酶亚基GAA1 / GPAA1是M28家族的金属肽合成酶,可催化底物蛋白质的ω-位点与GPI脂质锚的磷酸乙醇胺之间的肽键形成
机译:Gly-429和Thr-436之间的叶绿素ePINGING蛋白CP47的环E之间的突变,其特征在于照相系统II的水氧化复合物的膜 - 外部蛋白的存在或不存在
机译:诊断性奥德赛:研究癫痫发作和发育迟缓患者中CUL4B基因突变的作用及其对CUL4B蛋白复合物的影响。
机译:GPAA1中的突变编码GPI转酰胺酶复合蛋白导致发育延迟癫痫小脑萎缩和骨质减少
机译:Gpaa1中的突变,编码GpI转酰胺酶复合蛋白,导致发育迟缓,癫痫,小脑萎缩和骨质减少