Two Heterozygous Mutations in NFATC1 in a Patient with Tricuspid Atresia

PLoS ONE

Volumn 7, Issue 11, 2012, Pages

  Abdul Sater, Zahi ^a   Yehya, Amin ^a   Beresian, Jean ^a   Salem, Elie ^a   Kamar, Amina ^a   Baydoun, Serine ^a   Shibbani, Kamel ^a   Soubra, Ayman ^a   Bitar, Fadi ^a   Nemer, Georges ^a  

^a AMERICAN UNIVERSITY OF BEIRUT   (Lebanon)

Author keywords

[No Author keywords available]

Indexed keywords

NUCLEAR FACTOR FOR ACTIVATED T CELL 1 PROTEIN; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG;

ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; BINDING AFFINITY; CELLULAR DISTRIBUTION; CONTROLLED STUDY; DISEASE ASSOCIATION; EMBRYO; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC SCREENING; GENETIC TRANSCRIPTION; HETEROZYGOSITY; HUMAN; HUMAN CELL; MISSENSE MUTATION; MUTATOR GENE; NUCLEAR FACTOR FOR ACTIVATED T CELL 1 GENE; NUCLEOTIDE SEQUENCE; PROTEIN DNA BINDING; PROTEIN FUNCTION; PROTEIN PROTEIN INTERACTION; SINGLE NUCLEOTIDE POLYMORPHISM; SITE DIRECTED MUTAGENESIS; TRICUSPID VALVE ATRESIA;

ADOLESCENT; ALLELES; AMINO ACID SEQUENCE; BASE SEQUENCE; CASE-CONTROL STUDIES; CELL LINE, TUMOR; GENES, REPORTER; GENOTYPE; HETEROZYGOTE; HUMANS; LUCIFERASES; MALE; MOLECULAR SEQUENCE DATA; MUTAGENESIS, SITE-DIRECTED; NFATC TRANSCRIPTION FACTORS; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS, DNA; TRANSCRIPTION, GENETIC; TRANSFECTION; TRICUSPID ATRESIA; TRICUSPID VALVE;

MUS;

EID: 84870666065     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0049532     Document Type: Article

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