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Cryptogenic cholestasis in young and adults: ATP8B1, ABCB11, ABCB4, and TJP2 gene variants analysis by high-throughput sequencing.

Giovanni VitaleStefano GittoFrancesco RaimondiAlessandro MattiaccioVilma MantovaniRanka VukoticAntonietta D'ErricoMarco SeriRobert B RussellPietro Andreone
Published in: Journal of gastroenterology (2017)
Mutations in the genes responsible for PFIC may be involved in both young and adults with cryptogenic cholestasis in a considerable number of cases, including in heterozygous status. Diagnosis should always be suspected, particularly in the presence of itching.
Keyphrases
  • high throughput sequencing
  • copy number
  • genome wide
  • genome wide identification
  • middle aged
  • drug induced
  • early onset
  • pulmonary embolism
  • dna methylation
  • genome wide analysis