Article
Molecular study of Glanzmann thrombasthenia in 3 patients issued from 2 different families.
Thrombosis and haemostasis - 1 Sept 1995
Vinciguerra C, Trzeciak M C, Philippe N, Frappaz D, Reynaud J, Dechavanne M, Negrier C
Abstract excerpt
In an effort to further understand Glanzmann thrombasthenia (GT) 3 patients from 2 different families were studied. After biochemical and immunological analysis these patients were classified as type I. We observed in the first family a new restriction site for Stu I in exon II of the glycoprotein (GP) IIIa gene caused by a homozygous nonsense mutation: 62 Arg to stop codon. The parents were heterozygotes for...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
