Two homozygous missense mutations in ITGB3 gene as a cause of Glanzmann Thrombasthenia in four consanguineous Pakistani pedigrees.

CONCLUSION: 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. PMID: 32558238 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/32558238?dopt=Abstract

Source: International Journal of Laboratory Hematology - June 18, 2020 Category: Hematology Authors: Ali T, Gul S, Amar A, Shakoor M, Farhan S, Mohsin S, Khaliq S Tags: Int J Lab Hematol Source Type: research