Article
Glanzmann's thrombasthenia: identification of 19 new mutations in 30 patients.
Thrombosis and haemostasis - 1 Jun 2002
D'Andrea Giovanna, Colaizzo Donatella, Vecchione Gennaro, Grandone Elvira, Di Minno Giovanni, Margaglione Maurizio
Abstract excerpt
Glanzmann's thrombasthenia (GT) is a genetically heterogeneous autosomal recessive syndrome associated with a bleeding tendency. To elucidate molecular basis of GT we have screened for mutations 30 GT patients. On the whole, 21 different candidate causal mutations, 17 in the alphaIIb and 4 in the beta3 gene have been found. Only two (alphaIIb Pro145Ala and IVS3(-3)-418del) have been previously reported. Nine...
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