Two homozygous missense mutations in ITGB3 gene as a cause of Glanzmann Thrombasthenia in four consanguineous Pakistani pedigrees
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DOI: 10.1111/ijlh.13266
Abstract: Glanzmann thrombasthenia (GT) is most common of inherited platelet disorders, resulting from quantitative/qualitative defects in platelet surface integrin αIIbβ3, encoded by ITGA2B and ITGB3 genes. Little is known about clinical and molecular characteristics of GT… read more here.
Keywords: two homozygous; homozygous missense; glanzmann thrombasthenia; missense mutations ... See more keywords