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European Journal of Medical Genetics, ISSN 1769-7212, 02/2019, Volume 62, Issue 2, pp. 90 - 92
Pseudoxanthoma elasticum (PXE), an autosomal recessive systemic calcification disorder, is caused by mutations in the -gene and associated with severe visual... 
Pseudoxanthoma elasticum | Prevalence | ABCC6 | GENETIC-VARIATION | GENETICS & HEREDITY | MUTATIONS | R1141X | Index Medicus
Journal Article
Brain Pathology, ISSN 1015-6305, 11/2018, Volume 28, Issue 6, pp. 822 - 831
Journal Article
PLoS ONE, ISSN 1932-6203, 2013, Volume 8, Issue 7, pp. e68700 - e68700
Pseudoxanthoma elasticum (PXE), caused by mutations in the ABCC6 gene, is a rare multiorgan disease characterized by the mineralization and fragmentation of... 
ABCC6 GENE | RECOMMENDATIONS | QUANTIFICATION | MULTIDISCIPLINARY SCIENCES | MINERALIZATION | CALCIFICATION | PREVALENCE | MUTATIONS | CORONARY-ARTERY-DISEASE | R1141X | MANIFESTATIONS | Body Weight | Diastole | Pseudoxanthoma Elasticum - physiopathology | Humans | Middle Aged | Ventricular Function | Male | Pseudoxanthoma Elasticum - complications | Systole | Heart Valves - pathology | Pseudoxanthoma Elasticum - diagnostic imaging | ATP-Binding Cassette Transporters - deficiency | Coronary Artery Disease - physiopathology | Coronary Artery Disease - pathology | Ultrasonography | ATP-Binding Cassette Transporters - metabolism | Adult | Female | Disease Models, Animal | Organ Size | Myocardium - pathology | Pseudoxanthoma Elasticum - pathology | Myocytes, Cardiac - pathology | Coronary Artery Disease - diagnostic imaging | Animals | Coronary Artery Disease - complications | Fibrosis | Heart Valves - diagnostic imaging | Mice | Heart Valves - physiopathology | Cohort Studies | Heart | Medical research | Aortic valve stenosis | Electrocardiogram | Medicine, Experimental | Electrocardiography | Genetic aspects | SPECT imaging | Coronary heart disease | Neurosciences | Animal models | Cardiomyopathy | Stenosis | Cardiovascular disease | Family medical history | Scintigraphy | Fibers | Connective tissues | Mineralization | Etiology | Rodents | Cell cycle | Aorta | Heart diseases | EKG | Hypertension | Mitral valve | Echocardiography | Medical imaging | Complications | Abnormalities | Coronary artery | Contractility | Case reports | Coronary artery disease | Patients | Muscle contraction | Single photon emission computed tomography | Magnetic resonance imaging | Perfusion | Coronary vessels | Calcification | Skin | Ventricle | Mutation | Health risk assessment | Hypertrophy | Index Medicus
Journal Article
Journal of Molecular Medicine, ISSN 0946-2716, 10/2013, Volume 91, Issue 10, pp. 1177 - 1184
Journal Article
Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology, ISSN 2212-4403, 2015, Volume 119, Issue 4, pp. 441 - 450
Journal Article
Journal Article
American journal of medical genetics. Part A, ISSN 1552-4825, 2004, Volume 126A, Issue 4, pp. 403 - 412
Journal Article
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