Aberrant Expressions and Variant Screening of SEMA3D in Indonesian Hirschsprung Patients

@article{Gunadi2020AberrantEA,
  title={Aberrant Expressions and Variant Screening of SEMA3D in Indonesian Hirschsprung Patients},
  author={Gunadi and Alvin Santoso Kalim and N. Budi and Hamzah Muhammad Hafiq and Annisa Maharani and Maharani Febrianti and Fiko Ryantono and Dicky Yulianda and Kristy Iskandar and Joris A. Veltman},
  journal={Frontiers in Pediatrics},
  year={2020},
  volume={8}
}
Background: The semaphorin 3D (SEMA3D) gene has been implicated in the pathogenesis of Hirschsprung disease (HSCR), a complex genetic disorder characterized by the loss of ganglion cells in varying lengths of gastrointestinal tract. We wished to investigate the role of SEMA3D variants, both rare and common variants, as well as its mRNA expression in Indonesian HSCR patients. Methods: Sanger sequencing was performed in 54 HSCR patients to find a pathogenic variant in SEMA3D. Next, we determined… 

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