Homozygous point mutations in platelet glycoprotein ITGA2B gene as cause of Glanzmann thrombasthenia in 2 families

Klinische Padiatrie

Volumn 224, Issue 3, 2012, Pages 174-178

  Sandrock, K ^a   Halimeh, S ^b   Wiegering, V ^c   Kappert, G ^b   Sauer, K ^c   Deeg, N ^a   Busse, E ^a   Zieger, B ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

^b Coagulation Centre Rhine Ruhr ^*  (Germany)

^c UNIVERSITY HOSPITAL WÜRZBURG   (Germany)

Author keywords

Glanzmann thrombasthenia; glycoprotein GPIIb IIIa; platelet function analyses; point mutation

Indexed keywords

BLOOD CLOTTING FACTOR 7A; CYSTEINE; FIBRINOGEN RECEPTOR; GLYCINE; MESSENGER RNA; TRANEXAMIC ACID;

ADOLESCENT; AMINO ACID SUBSTITUTION; ARTICLE; BLEEDING TIME; CASE REPORT; CHILD; DISEASE SEVERITY; EPISTAXIS; FEMALE; FLOW CYTOMETRY; GENETIC ASSOCIATION; GENETIC VARIABILITY; GINGIVA BLEEDING; GLANZMANN DISEASE; HEMATOMA; HOMOZYGOTE; HUMAN; ITGA2B GENE; LIP RECONSTRUCTION; MALE; MENORRHAGIA; MOLECULAR PATHOLOGY; MOUTH ABSCESS; MUCOSAL BLEEDING; MUTATIONAL ANALYSIS; MUTATOR GENE; PETECHIA; PHARYNX HEMORRHAGE; POINT MUTATION; POSTOPERATIVE HEMORRHAGE; PRESCHOOL CHILD; RNA SPLICING; SCHOOL CHILD; SKIN BLEEDING; STOMATITIS; THROMBOCYTE AGGREGATION;

ADOLESCENT; ALLELES; AMINO ACID SUBSTITUTION; CHILD; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; FLOW CYTOMETRY; GENES, RECESSIVE; GLUTAMINE; HETEROZYGOTE DETECTION; HISTIDINE; HOMOZYGOTE; HUMANS; INTEGRIN ALPHA2; MALE; MUTATION, MISSENSE; PLATELET AGGREGATION; POINT MUTATION; RNA SPLICING; RNA, MESSENGER; THROMBASTHENIA;

EID: 84860565066     PISSN: 03008630     EISSN: 14393824     Source Type: Journal    
DOI: 10.1055/s-0032-1306346     Document Type: Article

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