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المؤلفون: Mary Claire King, Adi Aran, Tom Walsh, Kouichi Funato, Ephrat Levy-Lahad, Haruka Okai, Tzvia Rosen, Hiroto Denda, Hiroki Nakamura, Paul Renbaum, Sharon Zeligson, Katsuki Eto, Suleyman Gulsuner, Reeval Segel, Rachel Beeri
المصدر: neurogenetics. 21:259-267
مصطلحات موضوعية: Male, 0301 basic medicine, Adolescent, Glycosylphosphatidylinositols, Mutant, Golgi Apparatus, Endoplasmic Reticulum, medicine.disease_cause, Mannosyltransferases, 03 medical and health sciences, Cellular and Molecular Neuroscience, symbols.namesake, 0302 clinical medicine, Glycolipid, Protein Domains, Seizures, Intellectual Disability, Genetics, medicine, Humans, Child, Genetics (clinical), Brain Diseases, Mutation, Chemistry, Endoplasmic reticulum, Genetic Complementation Test, Homozygote, Temperature, Membrane Proteins, Fibroblasts, Golgi apparatus, Lipids, Sphingolipid, Transmembrane protein, Pedigree, Cell biology, carbohydrates (lipids), Complementation, 030104 developmental biology, symbols, lipids (amino acids, peptides, and proteins), Carrier Proteins, 030217 neurology & neurosurgery
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المؤلفون: Kouichi Funato, Atsuko Ikeda, Hiroki Nakamura, Reeval Segel, Ayumi Mizuno, Haruka Okai, Mei Kato, Paul Renbaum, Ryoko Ikema, Misako Araki
المصدر: FEBS lettersReferences. 594(15)
مصطلحات موضوعية: Saccharomyces cerevisiae Proteins, Glycosylphosphatidylinositols, Mutant, Biophysics, Mutation, Missense, Golgi Apparatus, Saccharomyces cerevisiae, Endoplasmic Reticulum, Biochemistry, 03 medical and health sciences, Structural Biology, Genetics, Molecular Biology, Gene, 030304 developmental biology, 0303 health sciences, Chemistry, Endoplasmic reticulum, 030302 biochemistry & molecular biology, Membrane Proteins, Cell Biology, Flippase, Intracellular Membranes, Phenotype, Yeast, Cell biology, carbohydrates (lipids), Complementation, Cold Temperature, Amino Acid Substitution, Cytoplasm, lipids (amino acids, peptides, and proteins)