Mutations in crdiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathy

American Journal of Human Genetics

Volumn 81, Issue 2, 2007, Pages 280-291

  Kirk, Edwin P ^a,c,d   Sunde, Margaret ^e   Costa, Mauro W ^a,g   Rankin, Scott A ^h,i   Wolstein, Orit ^a   Castro, M Leticia ^a   Butler, Tanya L ^f,j   Hyun, Changbaig ^d,k   Guo, Guanglan ^a   Otway, Robyn ^a   Mackay, Joel P ^e   Waddell, Leigh B ^j   Cole, Andrew D ^j   Hayward, Christopher ^b   Keogh, Anne ^a,b,d   Macdonald, Peter ^a,b,d   Griffiths, Lyn ^l   Fatkin, Diane ^a,b,d   Sholler, Gary F ^f,j   Zorn, Aaron M ^h,i   Feneley, Michael P ^a,b,d   Winlaw, David S ^f,j   Harvey, Richard P ^a,d   more..

^a VICTOR CHANG CARDIAC RESEARCH INSTITUTE   (Australia)

^b ST VINCENT S HOSPITAL   (Australia)

^c SYDNEY CHILDREN'S HOSPITAL   (Australia)

^d UNIVERSITY OF NEW SOUTH WALES   (Australia)

^e School of Molecular and Microbial Biosciences   (Australia)

^f University of Sydney   (Australia)

^g FEDERAL UNIVERSITY OF RIO DE JANEIRO   (Brazil)

^h Cincinnati Children's Research Foundation   (Australia)

ⁱ UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE   (United States)

^j CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^k Kangwon National University   (South Korea)

^l GRIFFITH UNIVERSITY   (Australia)

more..

Author keywords

[No Author keywords available]

Indexed keywords

MUTANT PROTEIN; PROTEIN TBX20; T BOX TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR GATA 4; TRANSCRIPTION FACTOR NKX2.5; TRANSCRIPTION FACTOR TBX5; UNCLASSIFIED DRUG; TBX20 PROTEIN, HUMAN;

ADOLESCENT; ADULT; AGED; ARTICLE; CARDIOMYOPATHY; CELL DIFFERENTIATION; CHILD; CONGENITAL HEART DISEASE; FAMILY HISTORY; FEMALE; FOLLOW UP; GENE; GENE EXPRESSION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC CONSERVATION; GENETIC SCREENING; GERM LINE; HEART DEVELOPMENT; HEART MUSCLE CELL; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NONHUMAN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DNA BINDING; PROTEIN DOMAIN; PROTEIN PROTEIN INTERACTION; RNA INTERFERENCE; STEM CELL; TBX20 GENE; VALVULAR HEART DISEASE; WILD TYPE; CHEMICAL STRUCTURE; CONGENITAL HEART MALFORMATION; CONGESTIVE CARDIOMYOPATHY; GENETICS; HEART; HEART SEPTUM DEFECT; INFANT; MIDDLE AGED; MOLECULAR GENETICS; MUTATION; NEWBORN; PEDIGREE; PRESCHOOL CHILD; STOP CODON;

MUS;

ADOLESCENT; ADULT; AGED; CARDIOMYOPATHIES; CARDIOMYOPATHY, DILATED; CHILD; CHILD, PRESCHOOL; CODON, NONSENSE; FEMALE; HEART; HEART DEFECTS, CONGENITAL; HEART SEPTAL DEFECTS; HUMANS; INFANT; INFANT, NEWBORN; MALE; MIDDLE AGED; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE; PEDIGREE; T-BOX DOMAIN PROTEINS;

EID: 34547738523     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/519530     Document Type: Article

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