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PLoS ONE, ISSN 1932-6203, 04/2017, Volume 12, Issue 4, p. e0175336
Journal Article
Journal Article
Annals of the Rheumatic Diseases, ISSN 0003-4967, 10/2019, Volume 78, Issue 10, pp. 1398 - 1404
ObjectivesFamilial Mediterranean fever (FMF) can be complicated by AA amyloidosis (AAA), though it remains unclear why only some patients develop amyloidosis.... 
Life Sciences | Human health and pathology | Hépatology and Gastroenterology | Rhumatology and musculoskeletal system
Journal Article
PLoS ONE, ISSN 1932-6203, 12/2008, Volume 3, Issue 12, pp. e3850 - e3850
Although the most common mechanism underlying congenital hyperinsulinism is dysfunction of the pancreatic ATP-sensitive potassium channel, the pathogenesis and... 
BIOLOGY | Protons | Humans | Ion Channels - genetics | Molecular Sequence Data | Infant | Male | Saccharomyces cerevisiae - drug effects | Mitochondrial Proteins - genetics | Mutation, Missense - genetics | Saccharomyces cerevisiae - metabolism | Insulin-Secreting Cells - metabolism | Congenital Hyperinsulinism - genetics | DNA Mutational Analysis | Base Sequence | Conserved Sequence | Female | Insulin Secretion | Ion Channels - chemistry | Amino Acid Sequence | Cell Line | Rats | Mutant Proteins - metabolism | Glucose - pharmacology | Mitochondria - metabolism | Mitochondria - drug effects | Spheroplasts - metabolism | Insulin - metabolism | Animals | Insulin-Secreting Cells - drug effects | Pedigree | Mitochondrial Proteins - chemistry | Heterozygote | Uncoupling Protein 2 | Spheroplasts - drug effects | Type 2 diabetes | Glucose metabolism | Medical research | Pancreatic beta cells | Genetic disorders | Physiological aspects | Medicine, Experimental | Amino acids | Genetic aspects | Glucose | Insulin | Dextrose | Mitochondrial uncoupling protein 2 | Pediatrics | Yeast | Pathogenesis | Genes | Homeostasis | Proteins | Mitochondria | Rodents | Physiology | Children | Pancreas | Deoxyribonucleic acid--DNA | Obesity | Congenital diseases | Secretion | Metabolism | Hypoglycemia | Gene expression | Fatty acids | Mutants | Acids | Insulin resistance | Intubation | Diabetes | Mutation | Potassium | Deoxyribonucleic acid | DNA
Journal Article
Human Genetics, ISSN 0340-6717, 9/2019, Volume 138, Issue 8, pp. 1051 - 1069
Journal Article
Human Mutation, ISSN 1059-7794, 2012, Volume 33, Issue 1, pp. 64 - 72
Journal Article
02/2008
Mowat-Wilson syndrome is a mental retardation-multiple congenital anomaly syndrome characterized by a typical facies, developmental delay, epilepsy, and... 
severe mental retardation | Mowat-Wilson syndrome | ZFHX1B gene | Dysmorphia
Web Resource
Journal Article