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The New England Journal of Medicine, ISSN 0028-4793, 09/2010, Volume 363, Issue 12, pp. 1189 - 1190
To the Editor: Erythrocytosis occurring in association with a subnormal serum erythropoietin level is indicative of underlying erythropoietin-independent... 
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
2016, ISBN 0128044691, ix, 180 pages
Nonsense Mutation Correction in Human Diseases: An Approach for Targeted Medicine provides an introduction on genetic diseases, discusses the prevalence of... 
Genetic Diseases, Inborn | Mutation (Biology) | Genetic disorders | Nonsense mutation | Biology, life sciences
Book
Journal Article
Nature Medicine, ISSN 1078-8956, 12/2014, Volume 20, Issue 12, pp. 1410 - 1416
The protein cytotoxic T lymphocyte antigen-4 (CTLA-4) is an essential negative regulator of immune responses, and its loss causes fatal autoimmunity in mice.... 
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 | Index Medicus
Journal Article
Nature, ISSN 0028-0836, 05/2010, Volume 465, Issue 7295, pp. 223 - 226
Amyotrophic lateral sclerosis (ALS) has its onset in middle age and is a progressive disorder characterized by degeneration of motor neurons of the primary... 
OPEN-ANGLE GLAUCOMA | COMPLEX | PROTEIN | GENE | MULTIDISCIPLINARY SCIENCES | EXPRESSION | NEMO | MYOSIN-VI | Amyotrophic Lateral Sclerosis - physiopathology | Humans | Middle Aged | Transcription Factor TFIIIA - genetics | Cytoplasm - metabolism | Male | NF-kappa B - metabolism | Cytoplasm - pathology | Transcription Factor TFIIIA - metabolism | Mutation, Missense - genetics | DNA-Binding Proteins - metabolism | Young Adult | Base Sequence | Aged, 80 and over | Adult | Female | Child | Superoxide Dismutase - metabolism | NF-kappa B - agonists | Amino Acid Sequence | NF-kappa B - antagonists & inhibitors | Amyotrophic Lateral Sclerosis - genetics | Japan | Mutant Proteins - genetics | Transcription Factor TFIIIA - chemistry | Exons - genetics | Mutant Proteins - metabolism | Mutation - genetics | Transcription Factor TFIIIA - analysis | Protein Transport | Amyotrophic Lateral Sclerosis - pathology | Asian Continental Ancestry Group | Pedigree | Mutant Proteins - chemistry | Adolescent | Amyotrophic Lateral Sclerosis - metabolism | Polymorphism, Single Nucleotide - genetics | Aged | Consanguinity | Superoxide Dismutase-1 | Mutant Proteins - analysis | Codon, Nonsense - genetics | Sequence Deletion - genetics | Cellular proteins | Gene mutations | Physiological aspects | Amyotrophic lateral sclerosis | Genetic aspects | Research | Health aspects | Risk factors | Haplotypes | Studies | Genes | Genetics | Amino acids | Mutation | Family medical history | Chromosomes | Apoptosis | Index Medicus
Journal Article
Journal Article
Nature Genetics, ISSN 1061-4036, 2008, Volume 40, Issue 2, pp. 232 - 236
Journal Article
Nature, ISSN 0028-0836, 05/2012, Volume 484, Issue 7397, pp. 237 - 241
Journal Article
by Crosby, Jacy and Peloso, Gina M and Auer, Paul L and Crosslin, David R and Stitziel, Nathan O and Lange, Leslie A and Lu, Yingchang and Tang, Zheng-Zheng and Zhang, He and Hindy, George and Masca, Nicholas and Stirrups, Kathleen and Kanoni, Stavroula and Do, Ron and Jun, Goo and Hu, Youna and Kang, Hyun Min and Xue, Chenyi and Goel, Anuj and Farrall, Martin and Duga, Stefano and Merlini, Pier Angelica and Asselta, Rosanna and Girelli, Domenico and Olivieri, Oliviero and Martinelli, Nicola and Yin, Wu and Reilly, Dermot and Speliotes, Elizabeth and Fox, Caroline S and Hveem, Kristian and Holmen, Oddgeir L and Nikpay, Majid and Farlow, Deborah N and Assimes, Themistocles L and Franceschini, Nora and Robinson, Jennifer and North, Kari E and Martin, Lisa W and DePristo, Mark and Gupta, Namrata and Escher, Stefan A and Jansson, Jan-Håkan and Van Zuydam, Natalie and Palmer, Colin N. A and Wareham, Nicholas and Koch, Werner and Meitinger, Thomas and Peters, Annette and Lieb, Wolfgang and Erbel, Raimund and Konig, Inke R and Kruppa, Jochen and Degenhardt, Franziska and Gottesman, Omri and Bottinger, Erwin P and O'Donnell, Christopher J and Psaty, Bruce M and Ballantyne, Christie M and Abecasis, Goncalo and Ordovas, Jose M and Melander, Olle and Watkins, Hugh and Orho-Melander, Marju and Ardissino, Diego and Loos, Ruth J. F and McPherson, Ruth and Willer, Cristen J and Erdmann, Jeanette and Hall, Alistair S and Samani, Nilesh J and Deloukas, Panos and Schunkert, Heribert and Wilson, James G and Kooperberg, Charles and Rich, Stephen S and Tracy, Russell P and Lin, Dan-Yu and Altshuler, David and Gabriel, Stacey and Nickerson, Deborah A and Jarvik, Gail P and Cupples, L. Adrienne and Reiner, Alex P and Boerwinkle, Eric and Kathiresan, Sekar and The TG and HDL Working Group of the Exome Sequencing Project, National Heart, Lung, and Blood Institute and Natl Heart Lung Blood Inst and Exome Sequencing Project and TG and HDL Working Group of the Exome Sequencing Project, National Heart, Lung, and Blood Institute and Medicinska fakulteten and Institutionen för folkhälsa och klinisk medicin and Umeå universitet and Medicin
The New England Journal of Medicine, ISSN 0028-4793, 07/2014, Volume 371, Issue 1, pp. 22 - 31
Journal Article