Type II Glanzmann thrombasthenia in a compound heterozygote for the αIIb gene. A novel missense mutation in exon 27

Haematologica

Volumn 91, Issue 10, 2006, Pages 1352-1359

  Jayo, Asier ^a   Pabón, Dina ^a   Lastres, Pedro ^a   Jiménez Yuste, Victor ^b   González Manchón, Consuelo ^a  

^a CENTRO DE INVESTIGACIONES BIOLÓGICAS   (Spain)

^b HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

Author keywords

Ib 3; Glanzmann thrombasthenia; Platelets; Splicing mutations

Indexed keywords

ARGININE; COMPLEMENTARY DNA; FIBRINOGEN; GENOMIC DNA; LEUCINE; MESSENGER RNA; PROLINE;

ANIMAL CELL; ARTICLE; CASE REPORT; CHO CELL; CLINICAL FEATURE; CODON; CONTROLLED STUDY; DNA SEQUENCE; DNA SPLICING; EXON; FEMALE; FLOW CYTOMETRY; GENETIC DISORDER; GLANZMANN DISEASE; HETEROZYGOTE; HUMAN; MISSENSE MUTATION; MOLECULAR GENETICS; NONHUMAN; PRESCHOOL CHILD; PROTEIN EXPRESSION; THROMBOCYTE; THROMBOCYTE ACTIVATION; WESTERN BLOTTING;

ANIMALS; CHILD, PRESCHOOL; CHO CELLS; CRICETINAE; EXONS; FEMALE; HETEROZYGOTE DETECTION; HUMANS; MUTATION, MISSENSE; PLATELET MEMBRANE GLYCOPROTEIN IIB; THROMBASTHENIA;

EID: 33750023905     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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