Identification of a mutation in a GATA binding site of the platelet glycoprotein Ibβ promoter resulting in the Bernard-Soulier Syndrome

Journal of Biological Chemistry

Volumn 271, Issue 36, 1996, Pages 22076-22080

  Ludlow, Laural B ^a   Schick, Barbara P ^a   Budarf, Marcia L ^b   Driscoll, Deborah A ^b   Zackai, Elaine H ^b   Cohen, Alan ^b   Konkle, Barbara A ^a,c  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

^b CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^c THOMAS JEFFERSON UNIVERSITY HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GLYCOPROTEIN IB; RECEPTOR PROTEIN; TRANSCRIPTION FACTOR GATA 1;

ALLELE; ARTICLE; BERNARD SOULIER DISEASE; BLEEDING DISORDER; CHROMOSOME 22; ENDOTHELIUM CELL; GENE DELETION; HUMAN; MEGAKARYOCYTE; PRIORITY JOURNAL; PROMOTER REGION; SEQUENCE ANALYSIS;

ALLELES; BASE SEQUENCE; BERNARD-SOULIER SYNDROME; BINDING SITES; BLOTTING, SOUTHERN; BLOTTING, WESTERN; CHLORAMPHENICOL O-ACETYLTRANSFERASE; CHROMOSOMES, HUMAN, PAIR 3; DNA; DNA-BINDING PROTEINS; ELECTROPHORESIS, POLYACRYLAMIDE GEL; ERYTHROID-SPECIFIC DNA-BINDING FACTORS; GATA1 TRANSCRIPTION FACTOR; HUMANS; MOLECULAR SEQUENCE DATA; PLATELET GLYCOPROTEIN GPIB-IX COMPLEX; POINT MUTATION; POLYMERASE CHAIN REACTION; PROMOTER REGIONS (GENETICS); RESTRICTION MAPPING; RNA, MESSENGER; TRANSCRIPTION FACTORS; TRANSFECTION;

EID: 0029832180     PISSN: 00219258     EISSN: None     Source Type: Journal    
DOI: 10.1074/jbc.271.36.22076     Document Type: Article

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