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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 Khaliq
Published 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.
Keyphrases
  • end stage renal disease
  • genome wide
  • ejection fraction
  • newly diagnosed
  • chronic kidney disease
  • copy number
  • prognostic factors
  • peritoneal dialysis
  • smoking cessation
  • dna methylation
  • transcription factor