Glanzmann's thrombasthenia due to a point mutation within intron 10 results in aberrant splicing of the β 3 gene

Journal of Thrombosis and Haemostasis

Volumn 1, Issue 11, 2003, Pages 2427-2433

  Tanaka, S ^a   Hayashi, T ^a   Terada, C ^a   Hori, Y ^a   Han, K S ^b   Ahn, H S ^b   Bourre, F ^c   Tani, Y ^a  

^a OSAKA RED CROSS HOSPITAL   (Japan)

^b Seoul National University College of Medicine   (South Korea)

^c CNRS   (France)

Author keywords

Aberrant splicing; Integrin IIb 3; Platelet; Thrombasthenia

Indexed keywords

BETA3 INTEGRIN; FIBRINOGEN RECEPTOR;

ALTERNATIVE RNA SPLICING; ARTICLE; BIOSYNTHESIS; BLEEDING; CASE REPORT; CHILD; FLOW CYTOMETRY; GENETIC TRANSFECTION; GENETICS; GLANZMANN DISEASE; HUMAN; INTRON; MALE; MOLECULAR CLONING; NUCLEOTIDE SEQUENCE; POINT MUTATION; PURPURA; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ALTERNATIVE SPLICING; CHILD; CLONING, MOLECULAR; DNA MUTATIONAL ANALYSIS; FLOW CYTOMETRY; HEMORRHAGE; HUMANS; INTEGRIN BETA3; INTRONS; MALE; PLATELET GLYCOPROTEIN GPIIB-IIIA COMPLEX; POINT MUTATION; PURPURA; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; THROMBASTHENIA; TRANSFECTION;

EID: 4444295949     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1046/j.1538-7836.2003.00423.x     Document Type: Article

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