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1
المؤلفون: Jin Cheon Kim, Jung Seon Kim, Seon Ae Roh, Hee Cheol Kim
المصدر: Journal of Korean Medical Science
مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, DNA Repair, Colorectal cancer, DNA repair, Mutation, Missense, Biology, Adenocarcinoma, Proto-Oncogene Proteins, medicine, Missense mutation, Humans, Epigenetics, Prospective Studies, Registries, Age of Onset, Promoter Regions, Genetic, neoplasms, Adaptor Proteins, Signal Transducing, Genetics, Microsatellite instability, nutritional and metabolic diseases, Nuclear Proteins, Proteins, General Medicine, DNA Methylation, medicine.disease, digestive system diseases, Neoplasm Proteins, DNA-Binding Proteins, MutS Homolog 2 Protein, DNA methylation, Cancer research, DNA mismatch repair, Female, Carrier Proteins, Colorectal Neoplasms, MutL Protein Homolog 1, Research Article, Microsatellite Repeats
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::adaa70e046905268c1bd91f3d95f41c2Test
http://europepmc.org/articles/PMC3055043Test -
2
المؤلفون: Sang-Jin Park, Hyon J. Kim, Seon-Yong Jeong
المصدر: Journal of Korean Medical Science
مصطلحات موضوعية: Adult, congenital, hereditary, and neonatal diseases and abnormalities, Neurofibromatosis 1, Genotype, Adolescent, NF1 Gene, DNA Mutational Analysis, Variation, Gene mutation, Biology, medicine.disease_cause, Exon, medicine, Humans, Missense mutation, Child, neoplasms, Gene, Genetics, Mutation, Korea, Neurofibromin 1, Point mutation, Infant, DNA, General Medicine, Middle Aged, Molecular biology, eye diseases, nervous system diseases, Phenotype, Child, Preschool, biology.protein, Original Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f795c393b1bf38efda0274141d421d0cTest
https://doi.org/10.3346/jkms.2006.21Test.1 .107 -
3
المؤلفون: Jin Ho Chung, Kyu Han Kim, Hyunok Choi, Ji Hwan Hwang, Kyung Chan Park, Won Suk Han, Ki Ho Park, Hee Chul Eun
المصدر: Journal of Korean Medical Science
مصطلحات موضوعية: Adult, congenital, hereditary, and neonatal diseases and abnormalities, Neurofibromatosis 1, DNA Mutational Analysis, Mutant, Nerve Tissue Proteins, medicine.disease_cause, Frameshift mutation, Exon, medicine, Humans, Frameshift Mutation, Gene, Polymorphism, Single-Stranded Conformational, Genetics, Mutation, Korea, Neurofibromin 1, Base Sequence, biology, Point mutation, General Medicine, Middle Aged, Molecular biology, Open reading frame, biology.protein, Female, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0140f098441e060ccf2cd053223f7c4Test
https://doi.org/10.3346/jkms.2000.15.5.542Test