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المؤلفون: Jeffrey C. Long, Amos D. Korczyn, Maurizio Pocchiari, Svetlana Litvak, Teodoro del Ser, Joab Chapman, Nyamkhishig Sambuughin, Hisako Furukawa, Paul Brown, D. Carleton Gajdusek, Hai Yan Qi, Larisa Cervenakova, Hee Suk Lee, Herbert Budka, Lev G. Goldfarb
المصدر: American Journal of Human Genetics. 64(4):1063-1070
مصطلحات موضوعية: Amyloid, Linkage disequilibrium, Creutzfeldt-Jakob Disease, PRNP mutation, Prions, Prion disease, Chromosomes, Human, Pair 20, Biology, Polymorphism, Single Nucleotide, Creutzfeldt-Jakob Syndrome, Linkage Disequilibrium, Prion Proteins, PRNP, Japan, Haplotype analysis, mental disorders, Prevalence, Genetics, Humans, Point Mutation, Genetics(clinical), Europe, Eastern, Protein Precursors, Codon, Letter to the Editor, Genetics (clinical), Family Health, Geography, Mediterranean Region, Haplotype, Founder Effect, nervous system diseases, Europe, Eastern european, Haplotypes, DNA polymorphism, Jews, Mutation (genetic algorithm), Familial Creutzfeldt-Jakob, Microsatellite Repeats, Founder effect
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::341a7e710309eea6f84639387f42d8edTest
http://hdl.handle.net/2324/5542Test -
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المؤلفون: Rachel E. Ellsworth, Kyproula Christodoulou, Jeffery M. Vance, Nyamkhishig Sambuughin, Imke Puls, Eric D. Green, Albena Jordanova, Annette Abel, Lev G. Goldfarb, Benoît Funalot, Kenneth H. Fischbeck, Shih Queen Lee-Lin, Lefkos T. Middleton, Victor Ionasescu, Anthony Antonellis, Ivo Kremensky, Kumaraswamy Sivakumar
المصدر: The American journal of human genetics
مصطلحات موضوعية: Glycine-tRNA Ligase, Male, DNA Mutational Analysis, Molecular Sequence Data, Mutation, Missense, Biology, medicine.disease_cause, Charcot-Marie-Tooth Disease Type 2D, Glycine—tRNA ligase, Muscular Atrophy, Spinal, chemistry.chemical_compound, Degenerative disease, Charcot-Marie-Tooth Disease, Report, medicine, Genetics, Missense mutation, Humans, Genetics(clinical), Amino Acid Sequence, Gene, Genetics (clinical), Genes, Dominant, Mutation, Sequence Homology, Amino Acid, Aminoacyl tRNA synthetase, Motor neuron, medicine.disease, Physical Chromosome Mapping, Pedigree, medicine.anatomical_structure, chemistry, Female, Chromosomes, Human, Pair 7
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::200ccfcfaf1cd420301a59075e4956c4Test
https://pubmed.ncbi.nlm.nih.gov/12690580Test