@article{6e7521bc79764c85b9cbc45bdb57e32a,
title = "Biallelic Mutations in the LSR Gene Cause a Novel Type of Infantile Intrahepatic Cholestasis",
abstract = "We identified biallelic pathogenic mutations in the Lipolysis-stimulated lipoprotein receptor (LSR) gene in a patient with infantile intrahepatic cholestasis. We established that mutations in the LSR gene, which encodes a protein which is critical for the formation of tricellular tight junctions in the liver, are a novel cause of pediatric cholestasis.",
keywords = "LSR, exome sequencing, infantile intrahepatic cholestasis, tricelluar tight junction",
author = "Tomoko Uehara and Mamiko Yamada and Shuichiro Umetsu and Hiroshi Nittono and Hisato Suzuki and Tomoo Fujisawa and Toshiki Takenouchi and Ayano Inui and Kenjiro Kosaki",
note = "Funding Information: Supported by the Japan Agency for Medical Research and Development ( JP18ek0109301 , to K.K.), Keio University Academic Development Funds for Individual Research (to M.Y.), and Japan Society for the Promotion of Science (KAKENHI Grant in-Aid for Early-Career Scientists JP19K17342, to M.Y.). The authors declare no conflicts of interest. Publisher Copyright: {\textcopyright} 2020 Elsevier Inc.",
year = "2020",
month = jun,
doi = "10.1016/j.jpeds.2020.01.064",
language = "English",
volume = "221",
pages = "251--254",
journal = "Journal of Pediatrics",
issn = "0022-3476",
publisher = "Mosby Inc.",
}