Phenotype-driven molecular autopsy for sudden cardiac death

Clinical Genetics

Volumn 91, Issue 1, 2017, Pages 22-29

  Cann, F ^a   Corbett, M ^b   O'Sullivan, D ^c   Tennant, S ^c   Hailey, H ^a   Grieve, J H K ^b   Broadhurst, P ^d   Rankin, R ^e   Dean, J C S ^a  

^a Ashgrove House ^*  (United Kingdom)

^b UNIVERSITY OF ABERDEEN   (United Kingdom)

^c North of Scotland Regional Genetics Service   (United Kingdom)

^d ABERDEEN ROYAL INFIRMARY   (United Kingdom)

^e RAIGMORE HOSPITAL   (United Kingdom)

Author keywords

clinical phenotyping; genetic testing; molecular autopsy; sudden death

Indexed keywords

CELL MEMBRANE PROTEIN; DSC2 PROTEIN; DSP PROTEIN; ION CHANNEL; MYH7 PROTEIN; MYOSIN BINDING PROTEIN C; MYOSIN BINDING PROTEIN C3; MYOSIN HEAVY CHAIN BETA; PKP2 PROTEIN; POTASSIUM CHANNEL; POTASSIUM CHANNEL KCNH2; POTASSIUM CHANNEL KCNQ1; RYANODINE RECEPTOR 2; SODIUM CHANNEL NAV1.5; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; AUTOPSY; CARDIAC CHANNELOPATHY; CARDIOMYOPATHY; CONGESTIVE CARDIOMYOPATHY; CONTROLLED STUDY; FEMALE; FORENSIC MEDICINE; GENETIC ANALYSIS; GENETIC VARIABILITY; HEART; HEART ARRHYTHMIA; HEART RIGHT VENTRICLE DYSPLASIA; HETEROZYGOTE; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; LABORATORY TEST; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; MOLECULAR DIAGNOSIS; MOLECULAR GENETICS; PATHOGENICITY; PHENOTYPE; PRIORITY JOURNAL; SUDDEN CARDIAC DEATH; YOUNG ADULT; ADOLESCENT; ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA; CARDIOMYOPATHIES; CARDIOMYOPATHY, DILATED; CARDIOMYOPATHY, HYPERTROPHIC; CHANNELOPATHIES; CHILD; COMPLICATION; DEATH, SUDDEN, CARDIAC; GENETIC PREDISPOSITION; GENETICS; INFANT; MOLECULAR PATHOLOGY; MUTATION; PATHOLOGY; PRESCHOOL CHILD; PROCEDURES;

ADOLESCENT; ADULT; AGED; ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA; AUTOPSY; CARDIOMYOPATHIES; CARDIOMYOPATHY, DILATED; CARDIOMYOPATHY, HYPERTROPHIC; CHANNELOPATHIES; CHILD; CHILD, PRESCHOOL; DEATH, SUDDEN, CARDIAC; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; MALE; MIDDLE AGED; MUTATION; PATHOLOGY, MOLECULAR; PHENOTYPE; YOUNG ADULT;

EID: 84966600293     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12778     Document Type: Article

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