Six novel mutations in the endoglin gene in hereditary hemorrhagic telangiectasia type 1 suggest a dominant-negative effect of receptor function.
McAllister
K A
KA
Department of Genetics, Duke University Medical Center, Durham, NC 27710, USA.
Baldwin
M A
MA
Thukkani
A K
AK
Gallione
C J
CJ
Berg
J N
JN
Porteous
M E
ME
Guttmacher
A E
AE
Marchuk
D A
DA
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
D015703:Antigens, CD; D003062:Codon; C064206:ENG protein, human; D000071063:Endoglin; D011956:Receptors, Cell Surface; D019010:Vascular Cell Adhesion Molecule-1