المؤلفون: John Rouse, Maithili Shroff, Axel Knebel, Rachel Toth

المصدر: Biochemical Journal

مصطلحات موضوعية: Heterochromatin, Cell Cycle Proteins, Biochemistry, Cell Line, PD-(D/E)XK, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, nuclease, DNA, Chromosomes & Chromosomal Structure, Molecular Biology, Gene, Research Articles, Anemia, Dyserythropoietic, Congenital, Glycoproteins, 030304 developmental biology, disease, 0303 health sciences, biology, DNA replication, Nuclear Proteins, CDAN1 Gene, Cell Biology, congenital dyserythropoietic anaemia type I, Chromatin, Cell biology, Histone, medicine.anatomical_structure, Cytoplasm, Multiprotein Complexes, Mutation, biology.protein, Bone marrow, complex, Molecular Chaperones, 030215 immunology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09bb38b6ba26dd8d2d43e41e0c6fb75c
https://doi.org/10.1042/bcj20190944

المؤلفون: Fengkui Zhang, Yong-Xin Ru, Yan Zhong Chang, Gang Liu, Shu-Xu Dong, Yongwei Wang, Xiaofan Zhu, Yuan Li, Guangjun Nie

المصدر: Gene. 640:73-78

مصطلحات موضوعية: Adult, Male, Ineffective erythropoiesis, Adolescent, Vesicular Transport Proteins, Cell Cycle Proteins, KLF1, Biology, medicine.disease_cause, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Asian People, Polymorphism (computer science), Genetics, medicine, Humans, Missense mutation, Child, Gene, Anemia, Dyserythropoietic, Congenital, Glycoproteins, Infant, Newborn, Infant, Nuclear Proteins, GATA1, CDAN1 Gene, General Medicine, Middle Aged, medicine.disease, Case-Control Studies, Child, Preschool, 030220 oncology & carcinogenesis, Mutation, Female, Congenital dyserythropoietic anemia, 030215 immunology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e77756b99c9bb01c4dcc21b0883a50b7
https://doi.org/10.1016/j.gene.2017.10.027

المؤلفون: Orly Dgany, Nili Avidan, Ali Shamseddine, Paresh Vyas, Laila Zahed, Anne-Marie O'Hea, Aref Chehal, Hannah Tamary, Nicola Bienz, William G. Wood, Jacqui S. Beckmann, Joud H. Haidar, Momin Ahmed, Sunitha N. Wickramasinghe, Ali T. Taher, Douglas R. Higgs

مصطلحات موضوعية: Adult, Male, Ineffective erythropoiesis, Genetic Linkage, Anemia, DNA Mutational Analysis, Quantitative Trait Loci, Immunology, Mutation, Missense, Biology, medicine.disease_cause, Biochemistry, Congenital dyserythropoietic anemia type I, hemic and lymphatic diseases, medicine, Humans, Aged, Anemia, Dyserythropoietic, Congenital, Glycoproteins, Genetics, Genetic heterogeneity, Nuclear Proteins, CDAN1 Gene, Cell Biology, Hematology, Middle Aged, medicine.disease, Pedigree, Mutational analysis, Mutation testing, Erythropoiesis, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2470a98478a3168f56dc493093f58b73
https://ora.ox.ac.uk/objects/uuid:7d196392-4918-4b4e-88c1-85221bc91fcd

المؤلفون: Xiao-Fan Zhu, Jing-tao Gao, Wen-wei Yan, Yong Xi Ru, Klaus Schwarz, Hermann Heimpel

المصدر: Annals of Hematology. 87:751-754

مصطلحات موضوعية: Male, China, Pediatrics, medicine.medical_specialty, Erythroblasts, Bone Marrow Cells, Biology, Compound heterozygosity, Nuclear Family, medicine, Humans, Syndactyly, Chinese family, Nuclear family, Anemia, Dyserythropoietic, Congenital, Glycoproteins, Genetics, Nuclear Proteins, CDAN1 Gene, Hematology, General Medicine, medicine.disease, Mutation, Mutation (genetic algorithm), Female, Congenital dyserythropoietic anemia, Founder effect

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee7273a61c68d5cdd765c0d1fdb777b4
https://doi.org/10.1007/s00277-008-0519-3

المؤلفون: Jean Delaunay, Alexandre Pariente, Tsvyia Olender, Doron Lancet, Lea Shalmon, Rina Zaizov, Aurore Crétien, Joseph Kapelushnik, Nili Avidan, Achille Iolascon, Ariel Koren, Hannah Tamary, Pierre-Olivier Schischmanoff, Tatyana Krasnov, Martine Le Merrer, Tal Eidelitz-Markus, Jochen Rössler, I Yaniv, Eithan Fibach, Daniel Cattan, Edna Ben-Asher, Jacques S. Beckmann, Hanna Shalev, Orly Dgany, Michel Tulliez

المصدر: The American Journal of Human Genetics. 71:1467-1474

مصطلحات موضوعية: Male, Candidate gene, Heterochromatin, Gene prediction, Molecular Sequence Data, Biology, Congenital dyserythropoietic anemia type I, Consanguinity, Report, Genetics, medicine, Humans, Erythropoiesis, Genetics(clinical), Amino Acid Sequence, RNA, Messenger, Israel, Gene, Genetics (clinical), Anemia, Dyserythropoietic, Congenital, Glycoproteins, Chromosomes, Human, Pair 15, Base Sequence, Nuclear Proteins, CDAN1 Gene, Exons, medicine.disease, Pedigree, Protein Structure, Tertiary, Phenotype, Mutation, Female, Congenital dyserythropoietic anemia, Sequence Alignment, Dyserythropoietic anemia

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5cdc99b4bb489c1b305c90df2654731d
https://doi.org/10.1086/344781

المؤلفون: Jacques Delaunay, Hannah Tamary

المصدر: British Journal of Haematology. 133:446-446

مصطلحات موضوعية: Genetics, Congenital dyserythropoietic anaemia type I, Genetic heterogeneity, A protein, CDAN1 Gene, Hematology, Biology, Phenotype, Gene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ebef1e426ce3e8b1b7477b34e8dcaed6
https://doi.org/10.1111/j.1365-2141.2006.06090.x