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1
المؤلفون: Christoph Gasche, Stefan Ries, Gerd Schmitz, Petra Fehringer, Heiner Greten, Charalampos Aslanidis, Nikola Jung, Christa Büchler, Dominique C. Belli, Detlev Ameis, Gisela Schindler, Axel Schambach, Marie T. Vanier
المصدر: Human Mutation, Vol. 12, No 1 (1998) pp. 44-51
مصطلحات موضوعية: Male, Heterozygote, Insecta, Genotype, Proline, RNA Splicing, Biology, Compound heterozygosity, medicine.disease_cause, Exon, Genetics, medicine, Missense mutation, Animals, Humans, Histidine, Gene, Genetics (clinical), Cells, Cultured, DNA Primers, chemistry.chemical_classification, Mutation, ddc:618, Transition (genetics), Base Sequence, Cholesterol Ester Storage Disease, Lysosomes/enzymology, Point mutation, Lipase, Molecular biology, Insects, Cholesterol Ester Storage Disease/genetics, Enzyme, Phenotype, Histidine/genetics, chemistry, Biochemistry, Amino Acid Substitution, Proline/genetics, Female, Lysosomes, Lipase/genetics
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2
المؤلفون: Emanuela Felley-Bosco, Weston A, Hm, Cawley, Wp, Bennett, Cc, Harris
المصدر: American Journal of Human Genetics, vol. 53, no. 3, pp. 752-759
Scopus-Elsevier
Europe PubMed Centralمصطلحات موضوعية: Polymorphism, Genetic, Base Sequence, Proline, Molecular Sequence Data, Black People, Genes, p53, Transfection, Immunohistochemistry, Polymerase Chain Reaction, United States, White People, Structure-Activity Relationship, Gene Frequency, Mutagenesis, Site-Directed, Serine, Tumor Cells, Cultured, Humans, Point Mutation, Cloning, Molecular, Tumor Suppressor Protein p53, African Continental Ancestry Group/genetics, Alleles, European Continental Ancestry Group/genetics, Genes, p53/genetics, Proline/genetics, Serine/genetics, Tumor Suppressor Protein p53/chemistry, Tumor Suppressor Protein p53/genetics, Research Article
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::1ef0064344292f51329a9dc48e8fa2b7
https://pubmed.ncbi.nlm.nih.gov/8352280