Expression analysis of four endoglin missense mutations suggests that haploinsufficiency is the predominant mechanism for hereditary hemorrhagic telangiectasia type 1

Human Molecular Genetics

Volumn 8, Issue 12, 1999, Pages 2171-2181

  Pece Barbara, Nadia ^a   Cymerman, Urszula ^a   Vera, Sonia ^a   Marchuk, Douglas A ^b   Letarte, Michelle ^a  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CELL PROTEIN; CELL SURFACE PROTEIN; ENDOGLIN; MEMBRANE PROTEIN; PROTEIN PRECURSOR; TRANSFORMING GROWTH FACTOR BETA RECEPTOR;

ARTICLE; BIOTINYLATION; CONTROLLED STUDY; DNA SEQUENCE; ENDOTHELIUM CELL; EXON; HUMAN; HUMAN CELL; MISSENSE MUTATION; MONOCYTE; PRIORITY JOURNAL; PROTEIN EXPRESSION; RENDU OSLER WEBER DISEASE; UMBILICAL VEIN; VASCULAR ENDOTHELIUM;

ANIMALS; ANTIGENS, CD; BASE SEQUENCE; CELL LINE; CELL MEMBRANE; COS CELLS; DNA PRIMERS; HAPLOTYPES; HUMANS; MUTATION, MISSENSE; RECEPTORS, CELL SURFACE; TELANGIECTASIA, HEREDITARY HEMORRHAGIC; VASCULAR CELL ADHESION MOLECULE-1;

EID: 0032742527     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/8.12.2171     Document Type: Article

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