Somatic mutations in angiopoietin receptor gene TEK cause solitary and multiple sporadic venous malformations

Nature Genetics

Volumn 41, Issue 1, 2009, Pages 118-124

  Limaye, Nisha ^a   Wouters, Vinciane ^a   Uebelhoer, Melanie ^a   Tuominen, Marjut ^b   Wirkkala, Riikka ^b   Mulliken, John B ^c   Eklund, Lauri ^b   Boon, Laurence M ^a,d   Vikkula, Miikka ^a  

^a DE DUVE INSTITUTE   (Belgium)

^b UNIVERSITY OF OULU   (Finland)

^c BOSTON CHILDREN S HOSPITAL   (United States)

^d CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

ANGIOPOIETIN RECEPTOR; LIGAND; MUTANT PROTEIN;

AMINO ACID SUBSTITUTION; ARTICLE; CONTROLLED STUDY; ENDOTHELIUM CELL; GENE FUNCTION; GENE OVEREXPRESSION; HUMAN; HUMAN CELL; HUMAN TISSUE; IN VITRO STUDY; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN LOCALIZATION; PROTEIN PHOSPHORYLATION; RECEPTOR GENE; SOMATIC MUTATION; TEK GENE; UMBILICAL VEIN; VEIN MALFORMATION; WILD TYPE;

ANGIOPOIETIN-1; ENDOPLASMIC RETICULUM; ENDOTHELIAL CELLS; HUMANS; LIGANDS; MUTANT PROTEINS; MUTATION; PHOSPHORYLATION; PROTEIN STRUCTURE, TERTIARY; PROTEIN TRANSPORT; RECEPTOR, TIE-2; SEQUENCE DELETION; VASCULAR MALFORMATIONS;

EID: 58149152854     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.272     Document Type: Article

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