title: Six novel mutations in the endoglin gene in hereditary hemorrhagic telangiectasia type 1 suggest a dominant-negative effect of receptor function.
authors.affiliation: Department of Genetics, Duke University Medical Center, Durham, NC 27710, USA.
authors.forename: K A
authors.initials: KA
authors.lastname: McAllister
authors.forename: M A
authors.initials: MA
authors.lastname: Baldwin
authors.forename: A K
authors.initials: AK
authors.lastname: Thukkani
authors.forename: C J
authors.initials: CJ
authors.lastname: Gallione
authors.forename: J N
authors.initials: JN
authors.lastname: Berg
authors.forename: M E
authors.initials: ME
authors.lastname: Porteous
authors.forename: A E
authors.initials: AE
authors.lastname: Guttmacher
authors.forename: D A
authors.initials: DA
authors.lastname: Marchuk
mesh_terms: D000595:Amino Acid Sequence; D015703:Antigens, CD; D001483:Base Sequence; D002874:Chromosome Mapping; D002899:Chromosomes, Human, Pair 9; D003062:Codon; D000071063:Endoglin; D005091:Exons; D005260:Female; D016368:Frameshift Mutation; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011956:Receptors, Cell Surface; D015183:Restriction Mapping; D017384:Sequence Deletion; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000235:genetics*; D019010:Vascular Cell Adhesion Molecule-1 / Q000235:genetics* / Q000378:metabolism
chemical_list: D015703:Antigens, CD; D003062:Codon; C064206:ENG protein, human; D000071063:Endoglin; D011956:Receptors, Cell Surface; D019010:Vascular Cell Adhesion Molecule-1