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1رسالة جامعية
المؤلفون: Conte, Simone
مصطلحات موضوعية: Myelodysplastic Syndrome -- genetics, Phosphoproteins -- genetics, Ribonucleoprotein, U2 Small Nuclear -- genetics, Genotype, Phenotype, Mutation -- genetics, Anemia, Sideroblastic -- genetics
Degree: Diss. (sammanfattning) Stockholm : Karolinska Institutet, 2016
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2رسالة جامعية
المؤلفون: Nikpour, Maryam
مصطلحات موضوعية: Anemia, Sideroblastic -- etiology, Anemia, Sideroblastic -- genetics, Anemia, Sideroblastic -- metabolism, Anemia, Refractory -- etiology, Anemia, Refractory -- genetics, Anemia, Refractory -- metabolism, ATP-Binding Cassette Transporters -- physiology, ATP-Binding Cassette Transporters -- metabolism, Antigens, CD3A -- biosynthesis, Iron -- metabolism, Gene Expression Regulation, Granulocyte Colony-Stimulating Factor -- pharmacodynamics, Genes, Mitochondrial -- physiology, Erythroblasts -- metabolism
URL الوصول: http://hdl.handle.net/10616/40679
Degree: Diss. (sammanfattning) Stockholm : Karolinska institutet, 2011
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3
المؤلفون: Marion Carol Sweeney, Karim Maloum, Axelle Lascaux, Sudharma Vidyatilake, Erica Moran, Corinne Pondarré, Carole Beaumont, Thomas Matthes, Bernard Grandchamp, Briedgeen Kerr, Alison May, Julian Sevilla Navarro, Jose L. Fuster Soler, Mayka Sanchez, Caroline Kannengiesser, Caroline Oudot, Gilles Hetet
المصدر: Haematologica, Vol. 96, No 6 (2011) pp. 808-813
مصطلحات موضوعية: Models, Molecular, Genotype, Sequence analysis, Molecular Sequence Data, Anemia, Sideroblastic/genetics, Biology, Compound heterozygosity, Mitochondrial Membrane Transport Proteins/chemistry/genetics/metabolism, Protein Structure, Secondary, Exon, Sideroblastic anemia, hemic and lymphatic diseases, medicine, Missense mutation, Humans, Amino Acid Sequence, Gene, Genetics, ddc:616, Infant, Newborn, Infant, Original Articles, Hematology, Exons, medicine.disease, Mitochondrial carrier, Amino Acid Substitution, Mutation, Missense/genetics, Child, Preschool, Sequence Alignment
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::854e4be423aa0461df9b99fdca64f27d
https://archive-ouverte.unige.ch/unige:79941