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المؤلفون: Ankan K. Bhadra, Hao Shao, Kevin C. Stein, Sara K. Pittman, Rocio Bengoechea, Jil A. Wright Daw, Heather L. True, Conrad C. Weihl, Andrew R. Findlay, Jason E. Gestwicki
المصدر: J Clin Invest
The Journal of clinical investigation, vol 130, iss 8مصطلحات موضوعية: 0301 basic medicine, Mutant, Sarcoplasm, Skeletal muscle, Protein aggregation, Medical and Health Sciences, Muscular Dystrophies, Limb-Girdle, Mice, 0302 clinical medicine, Chaperones, 2.1 Biological and endogenous factors, Muscular Dystrophy, Aetiology, Muscular dystrophy, Chemistry, General Medicine, Cell biology, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Gain of Function Mutation, Protein folding, Protein misfolding, Research Article, Intellectual and Developmental Disabilities (IDD), Immunology, Nerve Tissue Proteins, Saccharomyces cerevisiae, 03 medical and health sciences, Rare Diseases, Genetics, medicine, Animals, Humans, HSP70 Heat-Shock Proteins, Muscle Strength, Animal, Cell Biology, HSP40 Heat-Shock Proteins, medicine.disease, Brain Disorders, Hsp70, Disease Models, Animal, 030104 developmental biology, Muscular Dystrophies, Limb-Girdle, Cell culture, Hela Cells, Musculoskeletal, Disease Models, Muscle Biology, Limb-girdle muscular dystrophy, HeLa Cells, Molecular Chaperones
وصف الملف: application/pdf
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المؤلفون: Jil A. Wright Daw, Shenghui Duan, Anne M. Bowcock, Li Cao, Alan Menter, Pui-Yan Kwok, Rebecca A. Speckman, Patricia Taillon-Miller, Cynthia Helms
المصدر: Human Genetics. 112:34-41
مصطلحات موضوعية: Adult, Male, Genetic Linkage, Molecular Sequence Data, Locus (genetics), Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, Cohort Studies, Gene mapping, Genetic linkage, Gene cluster, Genetics, Humans, Psoriasis, Genetic Predisposition to Disease, Amino Acid Sequence, Genetics (clinical), Genes, Immunoglobulin, Haplotype, Chromosome 17 (human), Haplotypes, Multigene Family, Immunoglobulin superfamily, Female, Lod Score, Sequence Alignment, Chromosomes, Human, Pair 17, Microsatellite Repeats
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3Localization of PSORS1 to a haplotype block harboring HLA-C and distinct from corneodesmosin and HCR
المؤلفون: Tony M. Hsu, Marcelo Fernandez-Vina, Pui-Yan Kwok, K. Cao, Anne M. Bowcock, Alan Menter, Shenghui Duan, Patricia Taillon-Miller, Jurg Ott, Brandon L. Pierce, Derek Gordon, Jil A. Wright Daw, Li Cao, Nancy L. Saccone, John P. Rice, Cynthia Helms
المصدر: Human genetics. 118(3-4)
مصطلحات موضوعية: Candidate gene, Linkage disequilibrium, Single-nucleotide polymorphism, Human leukocyte antigen, HLA-C Antigens, Biology, Polymorphism, Single Nucleotide, Corneodesmosin, HLA-C, Genetics, Humans, Psoriasis, Genetic Predisposition to Disease, Genotyping, Genetics (clinical), Glycoproteins, Haplotype, Intracellular Signaling Peptides and Proteins, Chromosome Mapping, Proteins, Pedigree, Haplotypes, Case-Control Studies, Intercellular Signaling Peptides and Proteins, Regression Analysis
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المؤلفون: Alan Menter, Pui-Yan Kwok, Derek Gordon, Jil A. Wright Daw, Jurg Ott, Li Cao, Cynthia Helms, Anne M. Bowcock, Michael J. Heffernan, James G. Krueger, Francesca Chamian, Jason Robarge, Ellen M. Wijsman
المصدر: Nature genetics. 35(4)
مصطلحات موضوعية: Male, Sodium-Hydrogen Exchangers, Arylamine N-Acetyltransferase, T-Lymphocytes, Population, Molecular Sequence Data, Single-nucleotide polymorphism, Locus (genetics), Electrophoretic Mobility Shift Assay, Human leukocyte antigen, HLA-C Antigens, Biology, Polymorphism, Single Nucleotide, Psoriatic arthritis, Jurkat Cells, Gene Frequency, Genetic linkage, Psoriasis, Proto-Oncogene Proteins, Genetics, medicine, Humans, Genetic Predisposition to Disease, Allele, education, Luciferases, Promoter Regions, Genetic, Skin, education.field_of_study, Base Sequence, medicine.disease, Phosphoproteins, DNA-Binding Proteins, Immunology, Core Binding Factor Alpha 2 Subunit, Female, Carrier Proteins, Chromosomes, Human, Pair 17, Transcription Factors
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