Novel mutations in SKIV2L and TTC37 genes in Malaysian children with trichohepatoenteric syndrome.

@article{Lee2016NovelMI,
  title={Novel mutations in SKIV2L and TTC37 genes in Malaysian children with trichohepatoenteric syndrome.},
  author={Way Seah Lee and K. M. Teo and Ruey Terng Ng and Sze Yee Chong and Boon Pin Kee and Kek Heng Chua},
  journal={Gene},
  year={2016},
  volume={586 1},
  pages={1-6}
}
Trichohepatoenteric syndrome (THES) is a rare autosomal recessive disorder that is classically associated with intractable diarrhea with an onset within the first few months of life. Herein, we investigated and reported novel mutations in two causal genes in 3 Malaysian cases. Genomic DNA was extracted from peripheral blood obtained from patients in two Malaysian Chinese families. The exons of SKIV2L and TTC37 genes were amplified and sequenced by bi-directional sequencing to identify the point… CONTINUE READING

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