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1
المؤلفون: Luciano Baronciani, Elena Bredi, Manuela Zappa, Paola Bianchi, Giovanni Pelissero, Alberto Zanella, Cristina Vercellati, Girolamo Sirchia, Fiorella Alfinito
المصدر: Blood. 89:3847-3852
مصطلحات موضوعية: Genetics, Mutation, Point mutation, Nonsense mutation, Immunology, Cell Biology, Hematology, Biology, medicine.disease_cause, medicine.disease, Biochemistry, Stop codon, medicine, Missense mutation, Gene, Congenital hemolytic anemia, Pyruvate kinase deficiency
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66a25eeb15b9cfed2a89fd8e783af815
https://doi.org/10.1182/blood.v89.10.3847.3847_3847_3852 -
2
المؤلفون: Elena Bredi, Paola Bianchi, Alberto Zanella, Fiorenza Barraco, Giovanni Pelissero, Manuela Zappa, Cristina Vercellati
المصدر: British journal of haematology. 105(1)
مصطلحات موضوعية: Male, medicine.medical_specialty, Anemia, Hemolytic, DNA, Complementary, Erythrocytes, Nonsense mutation, Adenylate kinase, Biology, medicine.disease_cause, Exon, Complementary DNA, Internal medicine, medicine, Humans, Child, Mutation, Adenylate Kinase, Homozygote, Hematology, Enzyme structure, Stop codon, Endocrinology, Codon, Nonsense, Chronic Disease, Psychomotor disorder
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3
المؤلفون: Luciano Baronciani, Nicole Alloisio, Giovanni Pelissero, Alberto Zanella, Elena Bredi, Paola Bianchi, Giovanni Barosi, Girolamo Sirchia, J. Delaunay, Manuela Zappa, Cristina Vercellati
المصدر: British journal of haematology. 98(2)
مصطلحات موضوعية: Adult, Male, Adolescent, Molecular Sequence Data, Spherocytosis, Hereditary, Gene mutation, Biology, Hereditary spherocytosis, Exon, Anion Exchange Protein 1, Erythrocyte, Gene duplication, medicine, Humans, Amino Acid Sequence, Gene, Band 3, Genetics, Base Sequence, Intron, Hematology, DNA, Middle Aged, medicine.disease, Pedigree, Transmembrane domain, Multigene Family, Mutation, biology.protein, Female