Recessive primary congenital lymphoedema caused by a VEGFR3 mutation

Journal of Medical Genetics

Volumn 46, Issue 6, 2009, Pages 399-404

  Ghalamkarpour, A ^a   Holnthoner, W ^b   Saharinen, P ^b   Boon, L M ^a,c   Mulliken, J B ^d   Alitalo, K ^b   Vikkula, M ^a  

^a DE DUVE INSTITUTE   (Belgium)

^b HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^c CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

^d BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; AMINO ACID; MITOGEN ACTIVATED PROTEIN KINASE 1; MITOGEN ACTIVATED PROTEIN KINASE 3; THREONINE; VASCULOTROPIN RECEPTOR 3;

ARTICLE; CASE REPORT; DOMINANT INHERITANCE; EMBRYO; ENZYME ACTIVITY; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; HEREDITARY LYMPHEDEMA; HOMOZYGOSITY; HUMAN; HUMAN CELL; INTERNALIZATION; LYMPHATIC SYSTEM; MILROY DISEASE; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; PROTEIN DETERMINATION; PROTEIN DOMAIN; PROTEIN FUNCTION; PROTEIN PHOSPHORYLATION; PROTEIN PROCESSING; RECESSIVE INHERITANCE; SCREENING TEST;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; CELL LINE; GENES, RECESSIVE; HUMANS; LYMPHEDEMA; MICROSCOPY, FLUORESCENCE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; SEQUENCE ALIGNMENT; SIGNAL TRANSDUCTION; VASCULAR ENDOTHELIAL GROWTH FACTOR RECEPTOR-3;

EID: 67449132621     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2008.064469     Document Type: Article

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