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