Diversity of Glanzmann thrombasthenia in southern India: 10 novel mutations identified among 15 unrelated patients

Journal of Thrombosis and Haemostasis

Volumn 4, Issue 8, 2006, Pages 1730-1737

  Nelson, E J R ^a   Nair, S C ^a   Peretz, H ^b   Coller, B S ^c   Seligsohn, U ^d   Chandy, M ^a   Srivastava, Alok ^a  

^a CHRISTIAN MEDICAL COLLEGE   (India)

^b TEL AVIV SOURASKY MEDICAL CENTER   (Israel)

^c ROCKEFELLER UNIVERSITY   (United States)

^d SHEBA MEDICAL CENTER   (Israel)

Author keywords

IIb 3; Glanzmann thrombasthenia; Mutations; Polymorphisms

Indexed keywords

ALPHA2B INTEGRIN; ALPHA2BBETA3 INTEGRIN; BETA3 INTEGRIN; FIBRINOGEN; INTEGRIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CELL LYSATE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; FEMALE; GENE DELETION; GENE IDENTIFICATION; GENETIC HETEROGENEITY; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GLANZMANN DISEASE; HUMAN; HUMAN CELL; IMMUNOBLOTTING; INDIA; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYACRYLAMIDE GEL ELECTROPHORESIS; PREDICTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; THROMBOCYTE MEMBRANE;

ADOLESCENT; ADULT; BINDING SITES; BLOOD PLATELETS; CELL MEMBRANE; CHILD; DNA MUTATIONAL ANALYSIS; FEMALE; FIBRINOGEN; HUMANS; MALE; MUTATION; PLATELET GLYCOPROTEIN GPIIB-IIIA COMPLEX; POLYMORPHISM, GENETIC; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; THROMBASTHENIA;

EID: 33746618745     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1111/j.1538-7836.2006.02066.x     Document Type: Article

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