Mutation and expression analysis of the endoglin gene in Hereditary Hemorrhagic Telangiectasia reveals null alleles

Human Mutation

Volumn 11, Issue 4, 1998, Pages 286-294

  Gallione, Carol J ^a   Klaus, Daniel J ^a   Yeh, Eric Y ^a   Stenzel, Timothy T ^a   Xue, Yan ^a   Anthony, Kara B ^a   McAllister, Kimberly A ^a   Baldwin, Melanie A ^a   Berg, Jonathan N ^a   Lux, Andreas ^a   Smith, Joshua D ^b   Vary, Calvin P H ^b   Craigen, William J ^c   Westermann, C J J ^d   Warner, Mary L ^e   Miller, York E ^e   Jackson, C Eugene ^f   Guttmacher, Alan E ^g   Marchuk, Douglas A ^a  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

^b Vector Borne Disease Laboratory   (United States)

^c BAYLOR COLLEGE OF MEDICINE   (United States)

^d ST ANTONIUS HOSPITAL   (Netherlands)

^e VETERANS AFFAIRS MEDICAL CENTER   (United States)

^f HENRY FORD HOSPITAL   (United States)

^g UNIVERSITY OF VERMONT   (United States)

Author keywords

Endoglin; Hereditary hemorrhagic telangiectasia; Null allele; Osler Weber Rendu disease; Splice site mutation; Start codon mutation; TGF receptor

Indexed keywords

ENDOGLIN;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; FRAMESHIFT MUTATION; GENE EXPRESSION; GENE MUTATION; GENETIC LINKAGE; HUMAN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RENDU OSLER WEBER DISEASE;

ALLELES; ANTIGENS, CD; BASE SEQUENCE; DNA PRIMERS; GENE EXPRESSION; HUMANS; LINKAGE (GENETICS); MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; RECEPTORS, CELL SURFACE; TELANGIECTASIA, HEREDITARY HEMORRHAGIC; VASCULAR CELL ADHESION MOLECULE-1;

EID: 7144222768     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1998)11:4<286::AID-HUMU6>3.0.CO;2-B     Document Type: Article

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