Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation

Human Mutation

Volumn 33, Issue 4, 2012, Pages 720-727

  Tan, Huay L ^a   Glen, Elise ^a   Töpf, Ana ^a   Hall, Darroch ^a   O'Sullivan, John J ^b   Sneddon, Linda ^b   Wren, Christopher ^b   Avery, Peter ^c   Lewis, Richard J ^a   ten Dijke, Peter ^d   Arthur, Helen M ^a   Goodship, Judith A ^a   Keavney, Bernard D ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b NEWCASTLE UPON TYNE HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^c NEWCASTLE UNIVERSITY   (United Kingdom)

^d LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

BMP; Congenital heart defects; Rare genetic variants; SMAD

Indexed keywords

BONE MORPHOGENETIC PROTEIN RECEPTOR 1A; BONE MORPHOGENETIC PROTEIN RECEPTOR 2; SMAD6 PROTEIN;

ANIMAL CELL; ARTICLE; BONE DEVELOPMENT; CARDIOVASCULAR MALFORMATION; CONTROLLED STUDY; GENE MUTATION; GENE SEQUENCE; GENETIC PREDISPOSITION; GENETIC VARIABILITY; HUMAN; IN VITRO STUDY; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROMOTER REGION; SEQUENCE HOMOLOGY; SIGNAL TRANSDUCTION;

ALKALINE PHOSPHATASE; ANIMALS; BONE MORPHOGENETIC PROTEIN RECEPTORS, TYPE I; BONE MORPHOGENETIC PROTEIN RECEPTORS, TYPE II; BONE MORPHOGENETIC PROTEINS; CARDIOVASCULAR ABNORMALITIES; CELL LINE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GREAT BRITAIN; HUMANS; MICE; MUTATION; SIGNAL TRANSDUCTION; SMAD6 PROTEIN;

EID: 84858296684     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22030     Document Type: Article

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