A novel Phe171Cys mutation in integrin αIIb causes Glanzmann thrombasthenia by abrogating αIIbβ3 complex formation

Journal of Thrombosis and Haemostasis

Volumn 2, Issue 7, 2004, Pages 1167-1175

  Rosenberg, N ^a   Landau, M ^a,c   Luboshitz, J ^a   Rechavi, G ^b   Seligsohn, Uri ^a  

^a The Amalia Biron Research Institute of Thrombosis and Hemostasis   (Israel)

^b SHEBA MEDICAL CENTER   (Israel)

^c TEL AVIV UNIVERSITY   (Israel)

Author keywords

IIb mutation; IIb 3; Glanzmann thrombasthenia; Integrin

Indexed keywords

ALPHA2 INTEGRIN; COMPLEMENTARY DNA; CYSTEINE; FIBRINOGEN RECEPTOR; GLYCOPROTEIN IIB; GLYCOPROTEIN IIIA; GUANINE; PHENYLALANINE; THREONINE;

ADULT; ANIMAL CELL; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BIOCHEMISTRY; CASE REPORT; CHO CELL; CLINICAL OBSERVATION; COMPLEX FORMATION; CONTROLLED STUDY; CRYSTAL STRUCTURE; EXON; EXPERIMENTAL MODEL; FAMILY STUDY; FEMALE; FLUORESCENCE ACTIVATED CELL SORTING; GENE MUTATION; GENETIC ASSOCIATION; GENETIC TRANSFECTION; GLANZMANN DISEASE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; IMMUNOHISTOCHEMISTRY; IMMUNOPRECIPITATION; MALE; MOTHER; NONHUMAN; NUCLEIC ACID BASE SUBSTITUTION; PATHOGENESIS; PREDICTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN EXPRESSION; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM; SKIN BLEEDING; STRUCTURE ANALYSIS; THROMBOCYTE AGGREGATION; THROMBOCYTE ANOMALY; THROMBOCYTE MEMBRANE; WILD TYPE;

ADULT; BLOOD PLATELETS; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; HOMOZYGOTE; HUMANS; MALE; MUTATION, MISSENSE; PEDIGREE; PLATELET GLYCOPROTEIN GPIIB-IIIA COMPLEX; PLATELET MEMBRANE GLYCOPROTEIN IIB; PROTEIN BINDING; THROMBASTHENIA;

EID: 13244299072     PISSN: 15387933     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1538-7836.2004.00758.x     Document Type: Article

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