Two homozygous missense mutations in ITGB3 gene as a cause of Glanzmann Thrombasthenia in four consanguineous Pakistani pedigrees.
Tooba AliSaira GulAli AmarMadiha ShakoorSaima FarhanShahida MohsinShagufta KhaliqPublished in: International journal of laboratory hematology (2020)
This study provides an initial yet important account of clinical and genetic characterization of GT in local patients which may spark further studies to help molecular diagnosis, optimal disease management, and genetic counseling based prevention efforts.