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1دورية أكاديمية
المؤلفون: Igor Bychkov, Artur Galushkin, Alexandra Filatova, Andrey Nekrasov, Marina Kurkina, Galina Baydakova, Alexandra Ilyushkina, Mikhail Skoblov, Ekaterina Zakharova
المصدر: International Journal of Molecular Sciences, Vol 22, Iss 8, p 4154 (2021)
مصطلحات موضوعية: splicing variants, variant classification, functional analysis, PCCA and PCCB, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
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المؤلفون: Vyacheslav Tabakov, S. A. Klyushnikov, Maria Karpova, Grigory Perelman, Alexandra Filatova, Ekaterina Zakharova, Igor Bychkov, Mikhail Skoblov, Alexandra Ilyushkina, Tatiana Yu. Proshlyakova, Daria Korotkova, Galina Baydakova
المصدر: Eur J Hum Genet
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Penetrance, Biology, Brief Communication, Polymorphism, Single Nucleotide, Frameshift mutation, 03 medical and health sciences, Exon, Niemann-Pick C1 Protein, Polymorphism (computer science), hemic and lymphatic diseases, Twins, Dizygotic, Genetics, medicine, Humans, Point Mutation, Frameshift Mutation, Cells, Cultured, Genetics (clinical), 0303 health sciences, Niemann–Pick disease, type C, 030305 genetics & heredity, Wild type, nutritional and metabolic diseases, Niemann-Pick Disease, Type C, Fibroblasts, Middle Aged, medicine.disease, Molecular biology, RNA Splice Sites, NPC1, Minigene
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المؤلفون: Mikhail Skoblov, Marina V. Kurkina, Andrey Nekrasov, Galina Baydakova, Artur Galushkin, Alexandra Ilyushkina, Igor Bychkov, Alexandra Filatova, Ekaterina Zakharova
المصدر: International Journal of Molecular Sciences
Volume 22
Issue 8
International Journal of Molecular Sciences, Vol 22, Iss 4154, p 4154 (2021)مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Propionic Acidemia, PCCA and PCCB, QH301-705.5, RNA Splicing, 030105 genetics & heredity, Biology, medicine.disease_cause, Catalysis, Article, Cell Line, functional analysis, Inorganic Chemistry, 03 medical and health sciences, Loss of Function Mutation, medicine, Missense mutation, Humans, Physical and Theoretical Chemistry, Propionic acidemia, Biology (General), variant classification, Molecular Biology, Gene, QD1-999, Spectroscopy, Genetics, Mutation, Molecular pathology, Organic Chemistry, splicing variants, General Medicine, medicine.disease, Computer Science Applications, Chemistry, 030104 developmental biology, Carbon-Carbon Ligases, RNA splicing, Medical genetics, Minigene
وصف الملف: application/pdf
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المؤلفون: N.V. Nikitina, Galina Baydakova, S. Moiseev, Igor Bychkov, Ekaterina Zakharova, Alexandra Ilyushkina, Т.А. Buruleva
المصدر: Clinica chimica acta; international journal of clinical chemistry. 501
مصطلحات موضوعية: 0301 basic medicine, Adult, medicine.medical_specialty, Adolescent, Genotype, Clinical Biochemistry, Clinical manifestation, Biochemistry, 03 medical and health sciences, Young Adult, 0302 clinical medicine, α galactosidase a, Gla gene, Internal medicine, medicine, Diagnostic biomarker, Humans, Dried blood, Child, Gene, Aged, chemistry.chemical_classification, Sphingolipids, business.industry, Biochemistry (medical), General Medicine, Middle Aged, medicine.disease, Fabry disease, 030104 developmental biology, Enzyme, Endocrinology, chemistry, 030220 oncology & carcinogenesis, alpha-Galactosidase, Fabry Disease, Female, Dried Blood Spot Testing, Glycolipids, business, Biomarkers