المؤلفون: Roland L. Dunbrack, Qifang Xu, Friedrich Kueppers, Mark Andrake, Joannah Kim, Christopher Sanders

المصدر: BMC Medical Genetics, Vol 20, Iss 1, Pp 1-19 (2019)
BMC Medical Genetics

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Models, Molecular, Protein Conformation, alpha-Helical, medicine.medical_specialty, lcsh:Internal medicine, lcsh:QH426-470, RNA Splicing, 030105 genetics & heredity, Biology, 03 medical and health sciences, Sequence Analysis, Protein, alpha 1-Antitrypsin Deficiency, Genetics, medicine, Humans, Allele, lcsh:RC31-1245, Gene, Genotyping, Genetics (clinical), Aged, Aged, 80 and over, Alpha 1-antitrypsin deficiency, FoldX, Alpha 1 Antitrypsin Deficiency, Virulence, Cytogenetics, Genetic Variation, High-Throughput Nucleotide Sequencing, Rare variants, Middle Aged, Pennsylvania, medicine.disease, Stop codon, Human genetics, 3. Good health, lcsh:Genetics, 030104 developmental biology, Amino Acid Substitution, alpha 1-Antitrypsin, Female, SERPINA1, Protein modeling, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c6a2167b1d86bb6cfd2574abe0b4d57Test
http://link.springer.com/article/10.1186/s12881-019-0852-5Test

المؤلفون: Xiaojia Zhai, Zheng Wang, Bin Mao, Tao Yang, Xue Zhang, Siyu Chen, Xin Chen, Lulu Li, Xiuli Zhao, Xiumei Yu

المصدر: BMC Medical Genetics
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-9 (2018)

مصطلحات موضوعية: Male, 0301 basic medicine, DNA Mutational Analysis, 030105 genetics & heredity, medicine.disease_cause, Genotype-phenotype distinction, Child, Genetics (clinical), Aged, 80 and over, Genetics, Sanger sequencing, Mutation, Neurofibromin 1, Middle Aged, Phenotype, symbols, Female, Restriction fragment length polymorphism, Research Article, Adult, lcsh:Internal medicine, Heterozygote, Neurofibromatosis 1, lcsh:QH426-470, Adolescent, Genotype, Pseudogene, Biology, Young Adult, 03 medical and health sciences, symbols.namesake, Germline mutation, Asian People, medicine, Humans, Neurofibromatosis, lcsh:RC31-1245, Gene, Genetic Association Studies, Aged, Chinese, medicine.disease, eye diseases, lcsh:Genetics, Clinical manifestations, 030104 developmental biology, The NF1 gene, Multiplex Polymerase Chain Reaction, Neurofibromatosis type 1

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9027063510c85fddbb2c5634f028926Test
https://doi.org/10.1186/s12881-018-0615-8Test

المؤلفون: Monika Morak, Eivind Hovig, Elke Holinski-Feder, Sigve Nakken, Anke M. Nissen, Mev Dominguez-Valentin, Hélène Tubeuf, Daniel Vodak, Per Olaf Ekstrøm, Alexandra Martins, Pål Møller

المساهمون: Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques (GPMCND), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), University Hospital of the Ludwig-Maximilian-University Munich, Medizinische Klinik â€' Innenstadt, Lehrstuhl für Endokrinologie/Diabetologie, University Hospital of the Ludwig-Maximilians University, Génétique du cancer et des maladies neuropsychiatriques (GMFC)

المصدر: BMC Medical Genetics
BMC Medical Genetics, BioMed Central, 2018, 19 (1), ⟨10.1186/s12881-018-0533-9⟩
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-19 (2018)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, lcsh:Internal medicine, lcsh:QH426-470, [SDV]Life Sciences [q-bio], RNA Splicing, MAP Kinase Kinase Kinase 1, RNA splicing mutations, Biology, DNA Mismatch Repair, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, Humans, Genetic Predisposition to Disease, Gene panel testing, lcsh:RC31-1245, Gene, CHEK2, Receptor, Notch3, Genetics (clinical), ComputingMilieux_MISCELLANEOUS, Norway, Genetic Variation, Exons, Sequence Analysis, DNA, Amplicon, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, Human genetics, Lynch syndrome, 3. Good health, lcsh:Genetics, Checkpoint Kinase 2, 030104 developmental biology, 030220 oncology & carcinogenesis, RNA splicing, DNA mismatch repair, Female, Colorectal Neoplasms, Minigene, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7bb28d8f5e4adb2af795c1e1bc442f5Test
https://pubmed.ncbi.nlm.nih.gov/29458332Test