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1دورية أكاديمية
المؤلفون: Rossella Piras, Paraskevas Iatropoulos, Elena Bresin, Marta Todeschini, Sara Gastoldi, Elisabetta Valoti, Marta Alberti, Caterina Mele, Miriam Galbusera, Paola Cuccarolo, Ariela Benigni, Giuseppe Remuzzi, Marina Noris
المصدر: Frontiers in Medicine, Vol 7 (2020)
مصطلحات موضوعية: atypical hemolytic uremic syndrome, complement, membrane cofactor protein, incomplete penetrance, splicing, CD46 expression, Medicine (General), R5-920
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fmed.2020.579418/fullTest; https://doaj.org/toc/2296-858XTest
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المؤلفون: Marta Alberti, Paola Cuccarolo, Elisabetta Valoti, Caterina Mele, Paraskevas Iatropoulos, Miriam Galbusera, Ariela Benigni, Sara Gastoldi, Marina Noris, Rossella Piras, Marta Todeschini, Giuseppe Remuzzi, Elena Bresin
المصدر: Frontiers in Medicine
Frontiers in Medicine, Vol 7 (2020)مصطلحات موضوعية: 0301 basic medicine, Proband, 030232 urology & nephrology, urologic and male genital diseases, 03 medical and health sciences, splicing, 0302 clinical medicine, hemic and lymphatic diseases, Atypical hemolytic uremic syndrome, Medicine, complement, Original Research, Complement component 5, lcsh:R5-920, CD46 expression, biology, incomplete penetrance, business.industry, CD46, atypical hemolytic uremic syndrome, Haplotype, rare variants, General Medicine, medicine.disease, Penetrance, ex-vivo assay, 030104 developmental biology, Immunology, biology.protein, Alternative complement pathway, Antibody, lcsh:Medicine (General), business, membrane cofactor protein
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1c05f25f5438b06afc13ecf4a012e65Test
http://europepmc.org/articles/PMC7670076Test -
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المؤلفون: Piras, Rossella, Iatropoulos, Paraskevas, Bresin, Elena, Todeschini, Marta, Gastoldi, Sara, Valoti, Elisabetta, Alberti, Marta, Mele, Caterina, Galbusera, Miriam, Cuccarolo, Paola, Benigni, Ariela, Remuzzi, Giuseppe, Noris, Marina
المساهمون: Mister, Marilena, Cannata, Antonio, Ferrari, Silvia, Gamba, Sara
مصطلحات موضوعية: Rare Variants (RVs), CD46, c.286+2T>G, pedigree, haplotype, C3 and C5b-9 deposition, CD46 expression
العلاقة: info:eu-repo/grantAgreement/EC/FP7/305608/; https://zenodo.org/communities/irfmn-irccsTest; https://zenodo.org/record/5497135Test; https://doi.org/10.5281/zenodo.5497135Test; oai:zenodo.org:5497135
الإتاحة: https://doi.org/10.5281/zenodo.5497135Test
https://doi.org/10.3389/fmed.2020.579418Test
https://doi.org/10.5281/zenodo.5497134Test
https://zenodo.org/record/5497135Test -
4صورة
المؤلفون: Rossella Piras, Paraskevas Iatropoulos, Elena Bresin, Marta Todeschini, Sara Gastoldi, Elisabetta Valoti, Marta Alberti, Caterina Mele, Miriam Galbusera, Paola Cuccarolo, Ariela Benigni, Giuseppe Remuzzi, Marina Noris
مصطلحات موضوعية: Dermatology, Emergency Medicine, Gastroenterology and Hepatology, Geriatrics and Gerontology, Intensive Care, Medical Genetics (excl. Cancer Genetics), Nephrology and Urology, Nuclear Medicine, Orthopaedics, Otorhinolaryngology, Pathology (excl. Oral Pathology), Radiology and Organ Imaging, Foetal Development and Medicine, Obstetrics and Gynaecology, Family Care, Primary Health Care, Medical and Health Sciences not elsewhere classified, atypical hemolytic uremic syndrome, complement, membrane cofactor protein, incomplete penetrance, splicing, CD46 expression, ex-vivo assay, rare variants
الإتاحة: https://doi.org/10.3389/fmed.2020.579418.s001Test
https://figshare.com/articles/figure/Image_1_Molecular_Studies_and_an_ex_vivo_Complement_Assay_on_Endothelium_Highlight_the_Genetic_Complexity_of_Atypical_Hemolytic_Uremic_Syndrome_The_Case_of_a_Pedigree_With_a_Null_CD46_Variant_TIF/13181009Test