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المؤلفون: C. K. Schewe, H B Brewer, Michael P. Manns, Robert D. Shamburek, U. Beisiegel, L A Zech, M. Wendt, Manfred Stuhrmann, M. Ebhardt, Carsten Büttner, Hartmut H.-J. Schmidt
المصدر: The Journal of Clinical Endocrinology & Metabolism. 83:2167-2174
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Turkey, Apolipoprotein B, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Coronary Disease, Familial hypercholesterolemia, Biology, Biochemistry, Hyperlipoproteinemia Type II, Iodine Radioisotopes, chemistry.chemical_compound, Endocrinology, Germany, Internal medicine, Xanthomatosis, medicine, Humans, Apolipoproteins B, Skin, Catabolism, Cholesterol, Homozygote, Biochemistry (medical), Cholesterol, LDL, Fibroblasts, medicine.disease, Pedigree, Lipoproteins, LDL, Receptors, LDL, chemistry, Autosomal Recessive Hypercholesterolemia, Low-density lipoprotein, LDL receptor, biology.protein, lipids (amino acids, peptides, and proteins)
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المؤلفون: Rochelle Thiart, Taku Yamamura, M. Ebhardt, Maritha J. Kotze, Herbert Schuster, Christophe Béroud, Olivier S. Descamps, Jean-Pierre Rabès, Catherine Boileau, Ana Cenarro, Manfred Stuhrmann, Claudine Junien, Gert M. Kostner, Helena Schmidt, Heike Baron, Miguel Pocovi, Jean-Claude Hondelijn, Hartmut H.-J. Schmidt, Mathilde Varret, Yasuko Miyake
المصدر: Nucleic Acids Research. 26:248-252
مصطلحات موضوعية: Genetics, Mutation, Databases, Factual, Database, Hypercholesterolemia, Familial hypercholesterolemia, Biology, computer.software_genre, medicine.disease, medicine.disease_cause, Domain (software engineering), Computer Communication Networks, Exon, Receptors, LDL, CpG site, LDL receptor, medicine, Humans, Missense mutation, computer, Gene, Software, Research Article
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3
المؤلفون: M, Ebhardt, H, Schmidt, T, Doerk, U, Tietge, R, Haas, M P, Manns, J, Schmidtke, M, Stuhrmann
المصدر: Human mutation. 13(3)
مصطلحات موضوعية: Hyperlipoproteinemia Type II, Receptors, LDL, Germany, Apolipoprotein B-100, DNA Mutational Analysis, Mutation, Humans, Point Mutation, Genetic Testing, Frameshift Mutation, Apolipoproteins B
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المؤلفون: Britta Skawran, M. Frühwirth, M. Ebhardt, Astrid Golla, Wolfram Antonin, Helmut Ellemunter, Thilo Dörk, A. Loos, Joerg Schmidtke, Manfred Stuhrmann
المصدر: Scopus-Elsevier
ResearcherIDمصطلحات موضوعية: Adult, Male, Adolescent, Cystic Fibrosis, DNA Mutational Analysis, Population, Cystic Fibrosis Transmembrane Conductance Regulator, Biology, medicine.disease_cause, Genetic analysis, Very frequent, Gene Frequency, Germany, Genetics, medicine, Humans, Point Mutation, Missense mutation, education, Allele frequency, Polymorphism, Single-Stranded Conformational, Genetics (clinical), Sequence Deletion, education.field_of_study, Mutation, Point mutation, Homozygote, Italy, Austria, Female, Founder effect