Spectrum of genomic variations in Indian patients with progressive familial intrahepatic cholestasis.
Anjali SharmaUjjal PoddarShikha AgnihotryShubha R PhadkeSurender K YachhaRakesh AggarwalPublished in: BMC gastroenterology (2018)
Nine major genomic variations, including three novel ones, were identified in nearly one-third of Indian children with PFIC. No variation was identified in nearly two-thirds of patients, who may have been related to variations in promoter or intronic regions of the three PFIC genes, or in other bile-salt transport genes.