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1
المؤلفون: Thomas A. Aloysius, Barbara L. Weber, Anne Lise Børresen-Dale, Fergus J. Couch, Anne Dørum, Tone Ikdahl Andersen, Grete Kaada, Lisbeth Tranebjærg, Martina Skrede, Hilde Johnsen, Hans Geir Eiken, Kjell Magne Tveit, Pål Møller
المصدر: Human Mutation. 11:166-174
مصطلحات موضوعية: Gel electrophoresis, Genetics, Mutation, Single-strand conformation polymorphism, Biology, medicine.disease_cause, Molecular biology, genomic DNA, Exon, Complementary DNA, medicine, Coding region, Gene, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0ba9b0cccbee128df02da5cb00b2bbe6Test
https://doi.org/10.1002Test/(sici)1098-1004(1998)11:2<166::aid-humu10>3.0.co;2-x -
2
المؤلفون: Pertti Mustajoki, Sami Mustajoki, Helena Ahola, Raili Kauppinen
المصدر: Human mutation. 13(6)
مصطلحات موضوعية: Adult, Male, Porphobilinogen deaminase, Molecular Sequence Data, Alu element, Biology, Transfection, Polymerase Chain Reaction, Exon, Mutant protein, Alu Elements, Complementary DNA, Genetics, Coding region, Animals, Humans, Genetics (clinical), Polymorphism, Single-Stranded Conformational, Base Sequence, Models, Genetic, Chromosomes, Human, Pair 11, Single-strand conformation polymorphism, Molecular biology, Stop codon, Pedigree, Mutagenesis, Porphyria, Acute Intermittent, COS Cells, Mutation, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::491cf718c91a4f6b4b235ffa713dd8c2Test
https://pubmed.ncbi.nlm.nih.gov/10408772Test -
3
المؤلفون: Dominique P. Germain, Jérôme Perdu
المصدر: Human Mutation. 17:74-75
مصطلحات موضوعية: Genetics, Candidate gene, biology, ABCC6, Locus (genetics), Pseudoxanthoma elasticum, medicine.disease, Molecular biology, Complementary DNA, biology.protein, ABCC1, medicine, Coding region, Gene, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d0291669b4557e9e1c366ce2d5aee0cfTest
https://doi.org/10.1002/1098-1004Test(2001)17:1<74::aid-humu14>3.0.co;2-f -
4
المؤلفون: Mieczyslaw Chorazy, Marek Rusin, Curtis C. Harris, Dorota Butkiewicz
المصدر: Human Mutation. 15:577-578
مصطلحات موضوعية: Genetics, education.field_of_study, DNA repair, Population, Single-nucleotide polymorphism, Biology, Molecular biology, Complementary DNA, GenBank, Coding region, education, Gene, Genetics (clinical), Nucleotide excision repair
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::22706add403c025c0fa98edc93b7b954Test
https://doi.org/10.1002/1098-1004Test(200006)15:6<577::aid-humu11>3.0.co;2-w