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Immunological reviews, ISSN 1600-065X, 03/2009, Volume 228, Issue 1, pp. 273 - 287
Journal Article
The New England journal of medicine, ISSN 1533-4406, 07/2017, Volume 377, Issue 1, pp. 52 - 61
.... Inactivating mutations in CD55 result in hyperactivation of complement, angiopathic thrombosis, and protein-losing enteropathy. 
Protein-Losing Enteropathies | Complement Activation | Intestine, Small | T-Lymphocytes | Humans | Child, Preschool | Complement Inactivating Agents | Infant | Male | Immunoglobulin A | Thrombosis | Syndrome | Journal Article | Complement System Proteins | Homozygote | Pedigree | Statistics, Nonparametric | Female | Mutation | CD55 Antigens | Child | Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Intestine, Small - pathology | CD55 Antigens - genetics | Protein-Losing Enteropathies - genetics | Complement System Proteins - metabolism | CD55 Antigens - blood | Complement Activation - genetics | T-Lymphocytes - metabolism | Complement Inactivating Agents - pharmacology | Protein-Losing Enteropathies - complications | Immunoglobulin A - blood | Thrombosis - genetics | Complement Activation - drug effects | Proteins | Molecular targeted therapy | Gene mutations | Gastrointestinal diseases | Analysis | Homeostasis | Research | Blood clot | Gastrointestinal tract diseases | Complement component C5a | Lymphocytes T | Cell activation | Immunology | Pain | Intestine | Hepatology | Gastroenterology | Malabsorption | Thromboembolism | Digestive tract | Age | Edema | Medical research | Lymphatic system | Hypersensitivity | Diarrhea | Inflammation | Heredity | Protein deficiency | Patients | Hereditary diseases | Complement activation | Infectious diseases | Decay-accelerating factor | Index Medicus | Abridged Index Medicus
Journal Article
Endocrine, ISSN 1559-0100, 03/2018, Volume 62, Issue 1, pp. 215 - 233
Journal Article
Progress in molecular biology and translational science, ISSN 1877-1173, 01/2019, Volume 161, pp. 181 - 210
.... Since the first discovery of naturally occurring mutations in Rhodopsin gene in 1990, hundreds of loss-of-function mutations in multiple GPCRs have been identified to be pathogenic for more than... 
G protein-coupled receptor | Molecular classification | Obesity | Nephrogenic diabetes insipidus | Nonsense mutation | Retinitis pigmentosa | Inactivating mutation | Pharmacological chaperone | Hypogonadism
Journal Article
Journal Article