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1
المؤلفون: Jonathan Zonana, Betsy Ferguson, Denis J. Headon, Summer L. Street, Alex W. Monreal, Paul A. Overbeek
المصدر: Nature Genetics. 22:366-369
مصطلحات موضوعية: Genetic Markers, Male, Candidate gene, Ectodermal dysplasia, Receptors, Ectodysplasin, Molecular Sequence Data, Genes, Recessive, Locus (genetics), Biology, Receptors, Tumor Necrosis Factor, Mice, Ectodermal Dysplasia, Genetics, medicine, Animals, Humans, Edar Receptor, Tissue Distribution, Amino Acid Sequence, Hypohidrotic ectodermal dysplasia, Allele, Alleles, Genes, Dominant, EDARADD, Sequence Homology, Amino Acid, Membrane Proteins, Physical Chromosome Mapping, medicine.disease, Pedigree, Mutation, Female, Ectodysplasin A
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f6cf971df1e94ffbd4127e8129ec35cTest
https://doi.org/10.1038/11937Test -
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المؤلفون: Delyth Morgan, Primo Baybayan, Ellson Y. Chen, Jonathan Zonana, David Schlessinger, Betsy Ferguson, Ulpu Saarialho-Kere, Nicholas Stuart Tudor Thomas, Outi Montonen, Sini Ezer, Albert de la Chapelle, Anand Srivastava, Angus John Clarke, Juha Kere, Felix Munoz
المصدر: Nature Genetics. 13:409-416
مصطلحات موضوعية: Adult, Male, Ectodermal dysplasia, DNA, Complementary, X Chromosome, Positional cloning, Genetic Linkage, Molecular Sequence Data, Gene Expression, Biology, Translocation, Genetic, 03 medical and health sciences, 0302 clinical medicine, Ectodermal Dysplasia, Skin Physiological Phenomena, Genetics, medicine, Humans, Edar Receptor, Ectodysplasin A receptor, Amino Acid Sequence, RNA, Messenger, Hypohidrotic ectodermal dysplasia, Promoter Regions, Genetic, Chromosomes, Artificial, Yeast, Alleles, In Situ Hybridization, DNA Primers, 030304 developmental biology, Hypohidrosis, 0303 health sciences, EDARADD, Base Sequence, Tooth Abnormalities, Membrane Proteins, Alopecia, 030206 dentistry, Ectodysplasins, medicine.disease, CpG Islands, Ectodysplasin A, Hair
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37fa45bed92675ff2c763a66f568098cTest
https://doi.org/10.1038/ng0895-409Test -
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المؤلفون: Kiran Belani, Anne Durandy, Christine Bessia, Alain Israël, Sue Kenwrick, Hermann Kalhoff, Frederic Geissmann, Ralph S. Shapiro, Paul A. Overbeek, Philip A. Wood, Sophie Dupuis-Girod, Eric Reimund, Jean-Laurent Casanova, Jacqueline Feinberg, Smail Hadj Rabia, Françoise Le Deist, Dinakantha S. Kumararatne, Asma Smahi, Mary Ellen Conley, Alain Fischer, Gilles Courtois, Steven M. Holland, Denis J. Headon, Arnold Munnich, Christine Bodemer, Mario Abinun, Stéphane Blanche, Rainer Doffinger
المصدر: Nature genetics. 27(3)
مصطلحات موضوعية: Male, Ectodermal dysplasia, X Chromosome, Adolescent, Genetic Linkage, IκB kinase, Biology, Protein Serine-Threonine Kinases, Ectodermal Dysplasia, IKBKG, Genetics, medicine, Ectodysplasin A receptor, Edar Receptor, Humans, Child, Immunodeficiency, Immunity, Cellular, EDARADD, Immunologic Deficiency Syndromes, NF-kappa B, Infant, Membrane Proteins, Syndrome, Ectodysplasins, medicine.disease, I-kappa B Kinase, Child, Preschool, Immunology, Mutation, Codon, Terminator, Signal Transduction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65b4b5d678966043ee37c641058604dcTest
https://pubmed.ncbi.nlm.nih.gov/11242109Test