Investigations into the genetic causes of liver disease using molecular genetic technologies

@inproceedings{Bounford2016InvestigationsIT,
  title={Investigations into the genetic causes of liver disease using molecular genetic technologies},
  author={McKay Bounford and Kirsten Elizabeth},
  year={2016}
}
DNA sequencing technologies have developed quickly in the last decade, and new methodologies have moved into clinical practice. These can been used to investigate genetic causes of neonatal cholestasis. Neonatal cholestasis can be life-threatening and has a varied etiology. In chapter 3, a targeted next generation sequencing (tNGS) assay was designed and assessed for suitability for detection of known mutations in genes associated with cholestasis. In chapter 4, this was used to screen over… CONTINUE READING

References

Publications referenced by this paper.
SHOWING 1-10 OF 166 REFERENCES

Molecular genetics of citrullinemia types I and II

H. I. Woo, Park, H.-D, Lee, Y.-W
  • Clin. Chim. Acta 431,
  • 2014
VIEW 14 EXCERPTS
HIGHLY INFLUENTIAL

ABCB4 and ABCB11 mutations in intrahepatic cholestasis of pregnancy in an Italian population.

  • Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver
  • 2013
VIEW 12 EXCERPTS
HIGHLY INFLUENTIAL