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1دورية أكاديمية
المؤلفون: Barbaro, Michela1,2, Kotajärvi, Maire2,3, Harper, Pauline2,3,4, Floderus, Ylva2,3,4,5 ylva.floderus@karolinska.se
المصدر: Orphanet Journal of Rare Diseases. 2013, Vol. 8 Issue 1, p1-8. 8p. 1 Diagram, 2 Charts, 2 Graphs.
مصطلحات موضوعية: *PROTOPORPHYRINOGEN oxidase, *VARIEGATE porphyria, *HEPATIC porphyria, *BIOSYNTHESIS, *CHROMOSOME duplication
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المؤلفون: Michela Barbaro, Pauline Harper, Ylva Floderus, Maire Kotajärvi
المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 8, Iss 1, p 13 (2013)مصطلحات موضوعية: PPOX, Male, Variegate porphyria, Sequence analysis, VP, lcsh:Medicine, Alu element, Alu-mediated deletions, Biology, Polymerase Chain Reaction, Hepatic porphyria, Exon, Alu Elements, medicine, Humans, Genetics(clinical), Pharmacology (medical), Multiplex ligation-dependent probe amplification, Genetics (clinical), DNA Primers, Sweden, Medicine(all), Genetics, Base Sequence, Research, lcsh:R, General Medicine, medicine.disease, Molecular biology, MLPA, Pedigree, Protoporphyrinogen oxidase, Porphyria, Haplotypes, Molecular Probes, Female, Porphyria, Variegate, Gene Deletion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7315824193ff9c8e5da87a4d0a2f7552Test
https://doi.org/10.1186/1750-1172-8-13Test