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The New England Journal of Medicine, ISSN 0028-4793, 09/2010, Volume 363, Issue 12, pp. 1189 - 1190
..., or erythropoietin-hypersensitive erythropoiesis, in patients with congenital erythrocytosis related to an erythropoietin-receptor mutation... 
MEDICINE, GENERAL & INTERNAL | PREVALENCE | Polycythemia - genetics | Proteins - genetics | Phenotype | DNA Mutational Analysis | Humans | Janus Kinase 2 - genetics | Codon, Nonsense | Mutation, Missense | Bone marrow | Mutation | Lymphocytes | Pathogenesis
Journal Article
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 01/2012, Volume 366, Issue 3, pp. 243 - 249
Journal Article
Muscle & nerve, ISSN 0148-639X, 2014, Volume 50, Issue 4, pp. 477 - 487
Journal Article
by McDonald, Craig M and Campbell, Craig and Torricelli, Ricardo Erazo and Finkel, Richard S and Flanigan, Kevin M and Goemans, Nathalie and Heydemann, Peter and Kaminska, Anna and Kirschner, Janbernd and Muntoni, Francesco and Osorio, Andrés Nascimento and Schara, Ulrike and Sejersen, Thomas and Shieh, Perry B and Sweeney, H Lee and Topaloglu, Haluk and Tulinius, Már and Vilchez, Juan J and Voit, Thomas and Wong, Brenda and Elfring, Gary and Kroger, Hans and Luo, Xiaohui and McIntosh, Joseph and Ong, Tuyen and Riebling, Peter and Souza, Marcio and Spiegel, Robert J and Peltz, Stuart W and Mercuri, Eugenio and Alfano, Lindsay N and Eagle, Michelle and James, Meredith K and Lowes, Linda and Mayhew, Anna and Mazzone, Elena S and Nelson, Leslie and Rose, Kristy J and Abdel-Hamid, Hoda Z and Apkon, Susan D and Barohn, Richard J and Bertini, Enrico and Bloetzer, Clemens and de Vaud, Lausanne Canton and Butterfield, Russell J and Chabrol, Brigitte and Chae, Jong-Hee and Jongno-gu, Daehak-ro and Comi, Giacomi Pietro and Darras, Basil T and Dastgir, Jahannaz and Desguerre, Isabelle and Escobar, Raul G and Finanger, Erika and Guglieri, Michela and Hughes, Imelda and Iannaccone, Susan T and Jones, Kristi J and Karachunski, Peter and Kudr, Martin and Lotze, Timothy and Mah, Jean K and Mathews, Katherine and Nevo, Yoram and Parsons, Julie and Péréon, Yann and de Queiroz Campos Araujo, Alexandra Prufer and Renfroe, J Ben and de Resende, Maria Bernadete Dutra and Ryan, Monique and Selby, Kathryn and Tennekoon, Gihan and Vita, Giuseppe and Clinical Evaluator Training Group and ACT DMD Study Group and Clinical Evaluator Training Grp and ACT DMD Study Grp
The Lancet (British edition), ISSN 0140-6736, 2017, Volume 390, Issue 10101, pp. 1489 - 1498
.... Dystrophin deficiency is the underlying cause of disease; therefore, mutation-specific therapies aimed at restoring dystrophin protein production are being explored... 
MEDICINE, GENERAL & INTERNAL | END-POINTS | RELIABILITY | STAR AMBULATORY ASSESSMENT | 6-MINUTE WALK TEST | VALIDITY | Clinical trials | Care and treatment | Genetic aspects | Dystrophin | Duchenne muscular dystrophy | Analysis | Muscular dystrophy | Proteins | Neuromuscular diseases | Nonsense mutation | Duchenne's muscular dystrophy | Dystrophy | Mutation | Drug therapy | Patients | Evidence-based medicine
Journal Article
Journal Article
Nature medicine, ISSN 1546-170X, 2014, Volume 20, Issue 12, pp. 1410 - 1416
... and multiple autoimmune clinical features. We identified a heterozygous nonsense mutation in exon 1 of CTLA4... 
PATHWAYS | MEDICINE, RESEARCH & EXPERIMENTAL | CLINICAL-PICTURE | HOMEOSTASIS | BIOCHEMISTRY & MOLECULAR BIOLOGY | CELL BIOLOGY | AUTOIMMUNITY | REGULATORY T-CELLS | GERMLINE MUTATIONS | MICE | BLOCKADE | IMMUNODEFICIENCY | ABATACEPT | Recurrence | Agammaglobulinemia - immunology | Agammaglobulinemia - genetics | Purpura, Thrombocytopenic, Idiopathic - genetics | Exons | Immune System Diseases - genetics | Humans | Middle Aged | Male | Anemia, Hemolytic, Autoimmune - genetics | Mutation, Missense | Respiratory Tract Infections - genetics | T-Lymphocytes, Regulatory - immunology | Autoimmune Diseases - genetics | Young Adult | Purpura, Thrombocytopenic, Idiopathic - immunology | Adult | Female | Endocytosis - genetics | Polyendocrinopathies, Autoimmune - genetics | Child | Endocytosis - immunology | Granuloma - genetics | Autoimmune Diseases - immunology | CTLA-4 Antigen - genetics | B7-1 Antigen - metabolism | Codon, Nonsense | CTLA-4 Antigen - immunology | Syndrome | Polyendocrinopathies, Autoimmune - immunology | Lung Diseases, Interstitial - immunology | Animals | B-Lymphocytes - immunology | Lung Diseases, Interstitial - genetics | Pedigree | Anemia, Hemolytic, Autoimmune - immunology | Adolescent | Respiratory Tract Infections - immunology | Granuloma - immunology | Heterozygote | Mice | Antigens | Gene mutations | Physiological aspects | Genetic aspects | Immunologic diseases | Research | Risk factors | Proteins | Homeostasis | Cytotoxicity | Ligands | T cell receptors | Mutation | Immune system
Journal Article