Molecular genetic analysis of a compound heterozygote for the glycoprotein (GP) IIb gene associated with Glanzmann's thrombasthenia: Disruption of the 674-687 disulfide bridge in GPIIb prevents surface exposure of GPIIb-IIIa complexes

Blood

Volumn 93, Issue 3, 1999, Pages 866-875

  González Manchón, Consuelo ^b   Fernández Pinel, Marta ^b   Arias Salgado, Elena G ^b   Ferrer, Milagros ^b   Alvarez, M Victoria ^b   García Muñoz, Soledad ^b   Ayuso, Matilde S ^b   Parrilla, Roberto ^a  

^a CENTRO DE INVESTIGACIONES BIOLÓGICAS   (Spain)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

DISULFIDE; DNA; FIBRINOGEN RECEPTOR; GLYCOPROTEIN IIB; MESSENGER RNA;

ARTICLE; CASE REPORT; CONTROLLED STUDY; FEMALE; GENE DISRUPTION; GENE MUTATION; GENETIC TRANSFECTION; GLANZMANN DISEASE; HETEROZYGOTE; HUMAN; HUMAN CELL; IMMUNOPRECIPITATION; MOLECULAR GENETICS; NUCLEIC ACID BASE SUBSTITUTION; PHENOTYPE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SCHOOL CHILD; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 0345004833     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v93.3.866.403k11_866_875     Document Type: Article

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