A novel (288delC) mutation in exon 2 of GPIIb associated with type I Glanzmann's thrombasthenia

British Journal of Haematology

Volumn 111, Issue 1, 2000, Pages 96-103

  Tao, Jianming ^a   Arias Salgado, Elena García ^a   González Manchón, Consuelo ^a   Díaz Cremades, Juan ^b   Ayuso, Matilde S ^a   Parrilla, Roberto ^a  

^a CENTRO DE INVESTIGACIONES BIOLÓGICAS   (Spain)

^b HOSPITAL UNIVERSITARIO INSULAR DE GRAN CANARIA   (Spain)

Author keywords

Fibrinogen receptor; Glanzmann; GPIIb; Platelet; Thrombasthenia

Indexed keywords

CYTOSINE; FIBRINOGEN RECEPTOR; GLYCOPROTEIN IIB; MESSENGER RNA;

ALTERNATIVE RNA SPLICING; ANIMAL CELL; ARTICLE; BLEEDING TIME; CHO CELL; CONTROLLED STUDY; DIMERIZATION; EXON; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC ANALYSIS; GLANZMANN DISEASE; HUMAN; HUMAN CELL; NONHUMAN; NONSENSE MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RNA TRANSLATION; SINGLE STRAND CONFORMATION POLYMORPHISM; THROMBOCYTE AGGREGATION;

ADULT; ALTERNATIVE SPLICING; BLOOD PLATELETS; CONSANGUINITY; EXONS; FEMALE; FLOW CYTOMETRY; GENE DELETION; HOMOZYGOTE; HUMANS; MALE; PEDIGREE; PLATELET GLYCOPROTEIN GPIIB-IIIA COMPLEX; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SEQUENCE ANALYSIS, RNA; THROMBASTHENIA;

EID: 0033768441     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.2000.02336.x     Document Type: Article

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