α-Cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects

Human Molecular Genetics

Volumn 19, Issue 20, 2010, Pages 4007-4016

  Granados Riveron, Javier T ^a   Ghosh, Tushar K ^a   Pope, Mark ^a   Bu'Lock, Frances ^b   Thornborough, Christopher ^b   Eason, Jacqueline ^c   Kirk, Edwin P ^d,e,f   Fatkin, Diane ^d,f,g   Feneley, Michael P ^d,f,g   Harvey, Richard P ^d,f   Armour, John A L ^a   Brook, J David ^a  

^a QUEEN S MEDICAL CENTRE   (United Kingdom)

^b GLENFIELD HOSPITAL   (United Kingdom)

^c NOTTINGHAM CITY HOSPITAL   (United Kingdom)

^d VICTOR CHANG CARDIAC RESEARCH INSTITUTE   (Australia)

^e SYDNEY CHILDREN'S HOSPITAL   (Australia)

^f UNIVERSITY OF NEW SOUTH WALES   (Australia)

^g ST VINCENT S HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; GREEN FLUORESCENT PROTEIN; MUSCLE PROTEIN; MYOSIN HEAVY CHAIN ALPHA;

ADULT; ARTICLE; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; COPY NUMBER VARIATION; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DISEASE ASSOCIATION; FEMALE; GENE DELETION; GENE INSERTION; GENE OVEREXPRESSION; GENETIC TRANSFECTION; HUMAN; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PEDIGREE ANALYSIS; POINT MUTATION; PRIORITY JOURNAL; RNA SPLICING; SEQUENCE ANALYSIS;

ANIMALS; CARDIAC MYOSINS; CARDIOMYOPATHY, DILATED; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DNA COPY NUMBER VARIATIONS; DNA MUTATIONAL ANALYSIS; GENETIC ASSOCIATION STUDIES; HEART DEFECTS, CONGENITAL; HEART SEPTAL DEFECTS, ATRIAL; HUMANS; MICE; MUTATION; MYOBLASTS; MYOFIBRILS; MYOSIN HEAVY CHAINS; PLASMIDS; TRANSFECTION;

ANIMALIA;

EID: 77957738714     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddq315     Document Type: Article

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